#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
SYNDIG1	79953	broad.mit.edu	37	20	24565546	24565546	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr20:24565546C>T	ENST00000376862.3	+	3	1168	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	SYNDIG1_ENST00000482637.1_3'UTR	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN	synapse differentiation inducing 1	179					intracellular protein transport (GO:0006886)|positive regulation of synapse assembly (GO:0051965)|response to biotic stimulus (GO:0009607)|synaptic vesicle clustering (GO:0097091)	cell body (GO:0044297)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|early endosome membrane (GO:0031901)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	glutamate receptor binding (GO:0035254)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						GATGCCCCCGCGGGACCACCT	0.552																																						ENST00000376862.3																			0				breast(2)|endometrium(1)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	24						c.(535-537)Cgg>Tgg		synapse differentiation inducing 1							138.0	126.0	130.0					20																	24565546		2203	4300	6503	SO:0001583	missense	79953				response to biotic stimulus	early endosome membrane|integral to membrane|plasma membrane		g.chr20:24565546C>T	AK024282	CCDS13164.1	20p11.21	2011-06-30	2011-06-30	2011-06-30	ENSG00000101463	ENSG00000101463			15885	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 5"", ""synapse differentiation induced gene 1"""	614311	"""chromosome 20 open reading frame 39"", ""transmembrane protein 90B"""	C20orf39, TMEM90B		20152115	Standard	NM_024893		Approved	FLJ14220, IFITMD5, SynDIG1	uc002wtw.1	Q9H7V2	OTTHUMG00000032104	ENST00000376862.3:c.535C>T	20.37:g.24565546C>T	ENSP00000366058:p.Arg179Trp					SYNDIG1_ENST00000482637.1_3'UTR	p.R179W	NM_024893.1	NP_079169.1	Q9H7V2	SYNG1_HUMAN			3	1168	+			179					Q6IA30|Q9H514	Missense_Mutation	SNP	ENST00000376862.3	37	c.535C>T	CCDS13164.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.090311	0.36855	.	.	ENSG00000101463	ENST00000376862	D	0.87334	-2.24	5.1	1.96	0.26148	.	0.000000	0.64402	D	0.000001	D	0.90109	0.6910	M	0.62723	1.935	0.47778	D	0.99951	D	0.89917	1.0	D	0.79784	0.993	D	0.87443	0.2396	10	0.87932	D	0	-28.9413	6.8243	0.23874	0.4981:0.4176:0.0:0.0843	.	179	Q9H7V2	SYNG1_HUMAN	W	179	ENSP00000366058:R179W	ENSP00000366058:R179W	R	+	1	2	SYNDIG1	24513546	0.000000	0.05858	0.235000	0.24058	0.250000	0.25880	-0.503000	0.06383	0.129000	0.18514	0.561000	0.74099	CGG		0.552	SYNDIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078376.1	NM_024893		12	106	0	0	0	1	0	12	106				
S100A7L2	645922	broad.mit.edu	37	1	153409549	153409549	+	Silent	SNP	G	G	A	rs568882807		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:153409549G>A	ENST00000368725.2	-	3	323	c.324C>T	c.(322-324)tcC>tcT	p.S108S		NM_001045479.1	NP_001038944.2	Q5SY68	S1A7B_HUMAN	S100 calcium binding protein A7-like 2	97							calcium ion binding (GO:0005509)			NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTTCCCCCGGAACAGGGTG	0.488													G|||	1	0.000199681	0.0	0.0	5008	,	,		17628	0.0		0.0	False		,,,				2504	0.001					ENST00000368725.2																			0				NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8						c.(322-324)tcC>tcT		S100 calcium binding protein A7-like 2							155.0	166.0	162.0					1																	153409549		2203	4300	6503	SO:0001819	synonymous_variant	645922							g.chr1:153409549G>A			1q21.3	2013-01-10			ENSG00000197364	ENSG00000197364		"""EF-hand domain containing"""	21655	protein-coding gene	gene with protein product							Standard	NM_001045479		Approved	s100a7b	uc010pdx.2	Q5SY68	OTTHUMG00000013129	ENST00000368725.2:c.324C>T	1.37:g.153409549G>A							p.S108S	NM_001045479.1	NP_001038944.2			LUSC - Lung squamous cell carcinoma(543;0.171)		3	323	-	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)								Silent	SNP	ENST00000368725.2	37	c.324C>T																																																																																					0.488	S100A7L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036797.2	NM_001045479		45	95	0	0	0	1	0	45	95				
TP53	7157	broad.mit.edu	37	17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T	rs587782664		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:7577570C>T	ENST00000269305.4	-	7	900	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AACTGTTACACATGTAGTTGT	0.567		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		139	Substitution - Missense(113)|Deletion - In frame(8)|Whole gene deletion(8)|Unknown(5)|Deletion - Frameshift(3)|Insertion - Frameshift(1)|Insertion - In frame(1)	p.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(1)	upper_aerodigestive_tract(23)|ovary(22)|lung(18)|breast(18)|central_nervous_system(11)|haematopoietic_and_lymphoid_tissue(9)|large_intestine(9)|stomach(6)|biliary_tract(5)|bone(5)|oesophagus(4)|urinary_tract(3)|pancreas(2)|thyroid(1)|testis(1)|soft_tissue(1)|liver(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CM011014	TP53	M		c.(709-711)atG>atA	Other conserved DNA damage response genes	tumor protein p53							130.0	102.0	112.0					17																	7577570		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577570C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.711G>A	17.37:g.7577570C>T	ENSP00000269305:p.Met237Ile	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	7	843	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	237		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in sporadic cancers; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.711G>A	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	22.8	4.343240	0.82022	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99793	-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77;-6.77	4.09	3.12	0.35913	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	M	0.86953	2.85	0.54753	D	0.999983	D;D;D;D;D;D	0.89917	1.0;0.975;0.999;1.0;0.998;1.0	D;P;D;D;D;D	0.91635	0.999;0.864;0.999;0.999;0.999;0.998	D	0.97922	1.0315	10	0.72032	D	0.01	-32.6033	10.0519	0.42221	0.0:0.8993:0.0:0.1007	.	237;237;144;237;237;237	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	I	237;237;237;237;237;237;226;144;105;144	ENSP00000410739:M237I;ENSP00000352610:M237I;ENSP00000269305:M237I;ENSP00000398846:M237I;ENSP00000391127:M237I;ENSP00000391478:M237I;ENSP00000425104:M105I;ENSP00000423862:M144I	ENSP00000269305:M237I	M	-	3	0	TP53	7518295	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.556000	0.82233	1.305000	0.44909	0.462000	0.41574	ATG		0.567	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		27	9	0	0	0	1	0	27	9				
MAP2	4133	broad.mit.edu	37	2	210559664	210559664	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:210559664A>G	ENST00000360351.4	+	7	3276	c.2770A>G	c.(2770-2772)Aga>Gga	p.R924G	MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R920G|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	924					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	AGCAGCCGGAAGAGTCAAAGA	0.453																																					Pancreas(27;423 979 28787 29963)	ENST00000360351.4																			0				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124						c.(2770-2772)Aga>Gga		microtubule-associated protein 2	Estramustine(DB01196)						70.0	75.0	73.0					2																	210559664		2203	4300	6503	SO:0001583	missense	4133				central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity	g.chr2:210559664A>G		CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.2770A>G	2.37:g.210559664A>G	ENSP00000353508:p.Arg924Gly					MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Missense_Mutation_p.R920G|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron	p.R924G	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	7	3276	+		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)	924					Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	ENST00000360351.4	37	c.2770A>G	CCDS2384.1	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430939	0.62844	.	.	ENSG00000078018	ENST00000360351;ENST00000447185	T;T	0.26660	1.72;1.72	5.9	4.7	0.59300	MAP2/Tau projection (1);	0.086607	0.49916	D	0.000130	T	0.43077	0.1231	L	0.54323	1.7	0.36991	D	0.89479	D;D	0.64830	0.992;0.994	P;D	0.63793	0.866;0.918	T	0.52245	-0.8601	10	0.87932	D	0	-23.3209	13.2917	0.60274	0.8683:0.1317:0.0:0.0	.	920;924	P11137-3;P11137	.;MAP2_HUMAN	G	924;920	ENSP00000353508:R924G;ENSP00000392164:R920G	ENSP00000353508:R924G	R	+	1	2	MAP2	210267909	1.000000	0.71417	0.958000	0.39756	0.872000	0.50106	4.028000	0.57246	2.266000	0.75297	0.528000	0.53228	AGA		0.453	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538		8	43	0	0	0	1	0	8	43				
ZNF160	90338	broad.mit.edu	37	19	53573131	53573131	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr19:53573131G>A	ENST00000429604.1	-	7	1071	c.656C>T	c.(655-657)cCa>cTa	p.P219L	ZNF160_ENST00000418871.1_Missense_Mutation_p.P219L|ZNF160_ENST00000601421.1_Missense_Mutation_p.P183L|ZNF160_ENST00000599056.1_Missense_Mutation_p.P219L	NM_001102603.1|NM_198893.2	NP_001096073.1|NP_942596.1	Q9HCG1	ZN160_HUMAN	zinc finger protein 160	219					hemopoiesis (GO:0030097)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTGTTGAAGTGGTGACACTGA	0.383																																						ENST00000601421.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						c.(547-549)cCa>cTa		zinc finger protein 160							173.0	165.0	168.0					19																	53573131		2203	4300	6503	SO:0001583	missense	90338				hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53573131G>A	X78928	CCDS12859.1	19q13.42	2013-01-08				ENSG00000170949		"""Zinc fingers, C2H2-type"", ""-"""	12948	protein-coding gene	gene with protein product		600398				7774943, 7865130	Standard	NM_198893		Approved	HZF5, F11, KR18, HKr18, FLJ00032, KIAA1611	uc002qar.4	Q9HCG1		ENST00000429604.1:c.656C>T	19.37:g.53573131G>A	ENSP00000406201:p.Pro219Leu					ZNF160_ENST00000599056.1_Missense_Mutation_p.P219L|ZNF160_ENST00000418871.1_Missense_Mutation_p.P219L|ZNF160_ENST00000429604.1_Missense_Mutation_p.P219L	p.P183L			Q9HCG1	ZN160_HUMAN		GBM - Glioblastoma multiforme(134;0.02)	3	1424	-			219					Q14589|Q504Q8|Q96JC5|Q9BVY9|Q9H7N6	Missense_Mutation	SNP	ENST00000429604.1	37	c.548C>T	CCDS12859.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634944	0.29068	.	.	ENSG00000170949	ENST00000429604;ENST00000418871	T;T	0.07114	3.22;3.22	2.03	-0.187	0.13268	.	.	.	.	.	T	0.04092	0.0114	N	0.17631	0.505	0.09310	N	1	B	0.31581	0.329	B	0.22152	0.038	T	0.43475	-0.9389	9	0.26408	T	0.33	.	4.8323	0.13447	0.5078:0.0:0.4922:0.0	.	219	Q9HCG1	ZN160_HUMAN	L	219	ENSP00000406201:P219L;ENSP00000409597:P219L	ENSP00000409597:P219L	P	-	2	0	ZNF160	58264943	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	0.622000	0.24433	0.009000	0.14813	-0.291000	0.09656	CCA		0.383	ZNF160-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463994.2	NM_033288		24	110	0	0	0	1	0	24	110				
CD5L	922	broad.mit.edu	37	1	157804238	157804238	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:157804238T>G	ENST00000368174.4	-	4	773	c.677A>C	c.(676-678)aAc>aCc	p.N226T	CD5L_ENST00000484609.1_5'Flank	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	226	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTTGCAGGTGTTCTTCCCCCA	0.493																																						ENST00000368174.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52						c.(676-678)aAc>aCc		CD5 molecule-like							54.0	47.0	49.0					1																	157804238		2203	4300	6503	SO:0001583	missense	922				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	g.chr1:157804238T>G	U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.677A>C	1.37:g.157804238T>G	ENSP00000357156:p.Asn226Thr						p.N226T	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.24)		4	773	-	all_hematologic(112;0.0378)		226			SRCR 2.		A8K7M5|Q6UX63	Missense_Mutation	SNP	ENST00000368174.4	37	c.677A>C	CCDS1171.1	.	.	.	.	.	.	.	.	.	.	T	13.64	2.298841	0.40694	.	.	ENSG00000073754	ENST00000368174	T	0.34859	1.34	4.87	-3.67	0.04476	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	1.453140	0.04150	N	0.321116	T	0.13372	0.0324	L	0.39898	1.24	0.09310	N	1	B	0.26147	0.143	B	0.34093	0.175	T	0.42882	-0.9425	10	0.56958	D	0.05	.	7.1112	0.25390	0.1069:0.3572:0.0:0.5359	.	226	O43866	CD5L_HUMAN	T	226	ENSP00000357156:N226T	ENSP00000357156:N226T	N	-	2	0	CD5L	156070862	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.142000	0.16096	-1.448000	0.01941	-2.096000	0.00365	AAC		0.493	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058346.1	NM_005894		25	20	0	0	0	1	0	25	20				
ZNRF3	84133	broad.mit.edu	37	22	29438481	29438481	+	Splice_Site	SNP	A	A	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr22:29438481A>G	ENST00000544604.2	+	3	601		c.e3-1		ZNRF3_ENST00000406323.3_Splice_Site|ZNRF3_ENST00000402174.1_Splice_Site|ZNRF3_ENST00000332811.4_Splice_Site	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3						canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						TAACTCTGGCAGGCCAAGCGA	0.493																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.e3-1		zinc and ring finger 3							75.0	74.0	74.0					22																	29438481		1907	4127	6034	SO:0001630	splice_region_variant	84133					integral to membrane	zinc ion binding	g.chr22:29438481A>G	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.427-1A>G	22.37:g.29438481A>G						ZNRF3_ENST00000402174.1_Splice_Site|ZNRF3_ENST00000332811.4_Splice_Site|ZNRF3_ENST00000406323.3_Splice_Site		NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			3	601	+								B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Splice_Site	SNP	ENST00000544604.2	37		CCDS56225.1	.	.	.	.	.	.	.	.	.	.	.	19.88	3.909111	0.72868	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.559	0.76223	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNRF3	27768481	1.000000	0.71417	1.000000	0.80357	0.674000	0.39518	8.397000	0.90193	2.323000	0.78572	0.529000	0.55759	.		0.493	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972	Intron	17	15	0	0	0	1	0	17	15				
NALCN	259232	broad.mit.edu	37	13	101944628	101944628	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr13:101944628G>A	ENST00000251127.6	-	8	970	c.889C>T	c.(889-891)Cgt>Tgt	p.R297C	NALCN_ENST00000376196.3_Missense_Mutation_p.R297C|NALCN_ENST00000470333.1_5'UTR	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	297					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.R297C(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGTAGGAACGCCAACGGGGA	0.458																																						ENST00000251127.6																			1	Substitution - Missense(1)	p.R297C(1)	endometrium(1)	NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177						c.(889-891)Cgt>Tgt		sodium leak channel, non-selective							86.0	69.0	75.0					13																	101944628		2203	4300	6503	SO:0001583	missense	259232					integral to membrane	sodium channel activity|voltage-gated ion channel activity	g.chr13:101944628G>A	AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.889C>T	13.37:g.101944628G>A	ENSP00000251127:p.Arg297Cys					NALCN_ENST00000470333.1_5'UTR|NALCN_ENST00000376196.3_Missense_Mutation_p.R297C	p.R297C	NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN			8	970	-	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		297					Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	ENST00000251127.6	37	c.889C>T	CCDS9498.1	.	.	.	.	.	.	.	.	.	.	G	31	5.062118	0.93846	.	.	ENSG00000102452	ENST00000251127;ENST00000376196	D;D	0.98437	-4.93;-4.93	6.16	6.16	0.99307	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98890	0.9624	M	0.73962	2.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.971;0.998;0.978	D	0.98648	1.0678	10	0.39692	T	0.17	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	297;297;297	F2Z323;B3KSZ6;Q8IZF0	.;.;NALCN_HUMAN	C	297	ENSP00000251127:R297C;ENSP00000365367:R297C	ENSP00000251127:R297C	R	-	1	0	NALCN	100742629	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.648000	0.83479	2.937000	0.99478	0.650000	0.86243	CGT		0.458	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045663.2	NM_052867		9	30	0	0	0	1	0	9	30				
C10orf71	118461	broad.mit.edu	37	10	50532018	50532018	+	Silent	SNP	C	C	T	rs374214345		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:50532018C>T	ENST00000374144.3	+	3	1716	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	C10orf71_ENST00000323868.4_Silent_p.N476N			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	476										endometrium(1)	1						GACAGCTAAACGGATACCAAG	0.572																																						ENST00000374144.3																			0				endometrium(1)	1						c.(1426-1428)aaC>aaT		chromosome 10 open reading frame 71		C	,	1,4147		0,1,2073	33.0	36.0	35.0		1428,1428	-11.1	0.1	10		35	1,8431		0,1,4215	no	coding-synonymous,coding-synonymous	C10orf71	NM_001135196.1,NM_199459.3	,	0,2,6288	TT,TC,CC		0.0119,0.0241,0.0159	,	476/1436,476/720	50532018	2,12578	2074	4216	6290	SO:0001819	synonymous_variant	118461							g.chr10:50532018C>T	AL833265	CCDS44387.1	10q11.23	2012-05-31			ENSG00000177354	ENSG00000177354			26973	protein-coding gene	gene with protein product							Standard	NM_001135196		Approved	FLJ45913	uc021pqa.2	Q711Q0	OTTHUMG00000018190	ENST00000374144.3:c.1428C>T	10.37:g.50532018C>T						C10orf71_ENST00000323868.4_Silent_p.N476N	p.N476N			Q711Q0	CJ071_HUMAN			3	1716	+			476					A0AVL8	Silent	SNP	ENST00000374144.3	37	c.1428C>T	CCDS44387.1																																																																																				0.572	C10orf71-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047984.2	NM_199459		3	26	0	0	0	1	0	3	26				
SUZ12P1	440423	broad.mit.edu	37	17	29061941	29061941	+	RNA	SNP	T	T	C	rs112064181		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:29061941T>C	ENST00000582557.1	+	0	861																											TAGATTTCTTTGAACTCGGAA	0.303																																						ENST00000582557.1																			0																																																			0							g.chr17:29061941T>C																													17.37:g.29061941T>C														0	861	+									RNA	SNP	ENST00000582557.1	37																																																																																						0.303	SUZ12P-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000444260.1			6	140	0	0	0	1	0	6	140				
DBX1	120237	broad.mit.edu	37	11	20178066	20178066	+	Silent	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:20178066G>A	ENST00000524983.2	-	4	1014	c.726C>T	c.(724-726)cgC>cgT	p.R242R	DBX1_ENST00000227256.3_Silent_p.R281R			A6NMT0	DBX1_HUMAN	developing brain homeobox 1	242					regulation of transcription from RNA polymerase II promoter (GO:0006357)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						ACAGGAGTTCGCGCTCCTTGG	0.622																																						ENST00000524983.2																			0				endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)	21						c.(724-726)cgC>cgT		developing brain homeobox 1							31.0	34.0	33.0					11																	20178066		2203	4300	6503	SO:0001819	synonymous_variant	120237				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr11:20178066G>A			11p15.1	2011-06-20				ENSG00000109851		"""Homeoboxes / ANTP class : NKL subclass"""	33185	protein-coding gene	gene with protein product						11239429	Standard	NM_001029865		Approved		uc021qey.1	A6NMT0		ENST00000524983.2:c.726C>T	11.37:g.20178066G>A						DBX1_ENST00000227256.3_Silent_p.R281R	p.R242R			A6NMT0	DBX1_HUMAN			4	1014	-			242						Silent	SNP	ENST00000524983.2	37	c.726C>T																																																																																					0.622	DBX1-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000387585.2	NM_001029865		13	33	0	0	0	1	0	13	33				
KMT2C	58508	broad.mit.edu	37	7	151845693	151845693	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:151845693T>C	ENST00000262189.6	-	52	13537	c.13319A>G	c.(13318-13320)tAt>tGt	p.Y4440C	KMT2C_ENST00000355193.2_Missense_Mutation_p.Y4497C	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4440					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.Y4497C(1)|p.Y4440C(1)									CTGAGTCTCATAGACCTCCGT	0.507																																						ENST00000355193.2																			2	Substitution - Missense(2)	p.Y4497C(1)|p.Y4440C(1)	prostate(2)								c.(13489-13491)tAt>tGt		lysine (K)-specific methyltransferase 2C							115.0	112.0	113.0					7																	151845693		2203	4300	6503	SO:0001583	missense	58508							g.chr7:151845693T>C	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.13319A>G	7.37:g.151845693T>C	ENSP00000262189:p.Tyr4440Cys					KMT2C_ENST00000262189.6_Missense_Mutation_p.Y4440C	p.Y4497C							53	13708	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	ENST00000262189.6	37	c.13490A>G	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	T	15.93	2.977861	0.53720	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	T;T;T	0.70986	-0.53;-0.53;-0.53	5.24	5.24	0.73138	.	0.000000	0.39407	U	0.001380	D	0.82508	0.5052	M	0.69358	2.11	0.80722	D	1	D;D;D	0.89917	0.988;1.0;1.0	D;D;D	0.91635	0.993;0.999;0.999	D	0.84097	0.0393	10	0.59425	D	0.04	.	15.4242	0.75038	0.0:0.0:0.0:1.0	.	4440;3558;4497	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	C	4440;4497;1057	ENSP00000262189:Y4440C;ENSP00000347325:Y4497C;ENSP00000410411:Y1057C	ENSP00000262189:Y4440C	Y	-	2	0	MLL3	151476626	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.997000	0.88414	2.103000	0.63969	0.455000	0.32223	TAT		0.507	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			45	68	0	0	0	1	0	45	68				
WDR13	64743	broad.mit.edu	37	X	48458010	48458010	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:48458010A>T	ENST00000218056.5	+	4	933	c.428A>T	c.(427-429)gAg>gTg	p.E143V	WDR13_ENST00000376729.5_Missense_Mutation_p.E143V|WDR13_ENST00000492715.1_3'UTR	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353	Q9H1Z4	WDR13_HUMAN	WD repeat domain 13	143						cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						TCAGCAGCAGAGGCAAGTCGG	0.602																																						ENST00000218056.5																			0				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						c.(427-429)gAg>gTg		WD repeat domain 13							87.0	74.0	78.0					X																	48458010		2203	4300	6503	SO:0001583	missense	64743					cytoplasm|nucleus		g.chrX:48458010A>T	AF329819	CCDS14302.1	Xp11.23	2013-01-09			ENSG00000101940	ENSG00000101940		"""WD repeat domain containing"""	14352	protein-coding gene	gene with protein product		300512					Standard	NM_017883		Approved		uc004dkj.2	Q9H1Z4	OTTHUMG00000024119	ENST00000218056.5:c.428A>T	X.37:g.48458010A>T	ENSP00000218056:p.Glu143Val					WDR13_ENST00000492715.1_3'UTR	p.E143V	NM_001166426.1|NM_017883.4	NP_001159898.1|NP_060353.2	Q9H1Z4	WDR13_HUMAN			4	933	+			143					Q06DW8|Q06DX0|Q06DX1|Q9BUL7|Q9NWW4	Missense_Mutation	SNP	ENST00000218056.5	37	c.428A>T	CCDS14302.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.589955	0.86851	.	.	ENSG00000101940	ENST00000376729;ENST00000218056	T;T	0.73047	-0.71;-0.71	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.78162	0.4240	M	0.61703	1.905	0.80722	D	1	D;D	0.71674	0.996;0.998	P;P	0.59221	0.806;0.854	T	0.78329	-0.2246	10	0.42905	T	0.14	-16.9547	12.3712	0.55256	1.0:0.0:0.0:0.0	.	21;143	B4DVQ7;Q9H1Z4	.;WDR13_HUMAN	V	143	ENSP00000365919:E143V;ENSP00000218056:E143V	ENSP00000218056:E143V	E	+	2	0	WDR13	48342954	1.000000	0.71417	0.995000	0.50966	0.841000	0.47740	8.148000	0.89630	1.826000	0.53198	0.430000	0.28490	GAG		0.602	WDR13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060743.2			34	12	0	0	0	1	0	34	12				
SCN11A	11280	broad.mit.edu	37	3	38950678	38950678	+	Missense_Mutation	SNP	C	C	T	rs138034948	byFrequency	TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr3:38950678C>T	ENST00000302328.3	-	9	1307	c.1109G>A	c.(1108-1110)cGt>cAt	p.R370H	AC116038.1_ENST00000401122.1_RNA|SCN11A_ENST00000456224.3_Missense_Mutation_p.R370H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R370H|SCN11A_ENST00000444237.2_Missense_Mutation_p.R370H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	370					cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.R370H(2)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	CCCAGTAGTACGCAGGGTCTG	0.453													C|||	8	0.00159744	0.0061	0.0	5008	,	,		21836	0.0		0.0	False		,,,				2504	0.0					ENST00000302328.3																			2	Substitution - Missense(2)	p.R370H(2)	endometrium(1)|pancreas(1)	NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119						c.(1108-1110)cGt>cAt		sodium channel, voltage-gated, type XI, alpha subunit	Cocaine(DB00907)	C	HIS/ARG	22,4384	28.1+/-56.4	0,22,2181	120.0	116.0	118.0		1109	0.9	0.0	3	dbSNP_134	118	0,8600		0,0,4300	yes	missense	SCN11A	NM_014139.2	29	0,22,6481	TT,TC,CC		0.0,0.4993,0.1692	probably-damaging	370/1792	38950678	22,12984	2203	4300	6503	SO:0001583	missense	11280				response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr3:38950678C>T	AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.1109G>A	3.37:g.38950678C>T	ENSP00000307599:p.Arg370His					SCN11A_ENST00000456224.3_Missense_Mutation_p.R370H|SCN11A_ENST00000444237.2_Missense_Mutation_p.R370H|SCN11A_ENST00000450244.1_Missense_Mutation_p.R370H	p.R370H	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN		Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	9	1307	-			370					A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Missense_Mutation	SNP	ENST00000302328.3	37	c.1109G>A	CCDS33737.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	C	15.09	2.728822	0.48833	0.004993	0.0	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	D;D;D;D	0.98701	-5.08;-5.08;-5.08;-5.08	5.2	0.861	0.19048	Ion transport (1);	0.316995	0.34555	N	0.003867	D	0.96892	0.8985	M	0.78344	2.41	0.09310	N	1	B	0.30973	0.302	B	0.25759	0.063	D	0.92935	0.6367	10	0.66056	D	0.02	.	7.8157	0.29258	0.3952:0.5253:0.0:0.0795	.	370	Q9UI33	SCNBA_HUMAN	H	370	ENSP00000307599:R370H;ENSP00000400945:R370H;ENSP00000416757:R370H;ENSP00000408028:R370H	ENSP00000307599:R370H	R	-	2	0	SCN11A	38925682	0.012000	0.17670	0.000000	0.03702	0.388000	0.30384	1.278000	0.33179	-0.141000	0.11374	-0.535000	0.04281	CGT		0.453	SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139		7	56	0	0	0	1	0	7	56				
FLG	2312	broad.mit.edu	37	1	152284791	152284791	+	Silent	SNP	G	G	A	rs375680393		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:152284791G>A	ENST00000368799.1	-	3	2606	c.2571C>T	c.(2569-2571)caC>caT	p.H857H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	857	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGATTGCTCGTGGTGGGACC	0.592									Ichthyosis																													ENST00000368799.1																			0				autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424						c.(2569-2571)caC>caT		filaggrin		G		1,4405		0,1,2202	348.0	338.0	341.0		2571	-7.7	0.0	1		341	1,8599		0,1,4299	no	coding-synonymous	FLG	NM_002016.1		0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154		857/4062	152284791	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152284791G>A	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.2571C>T	1.37:g.152284791G>A						FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	p.H857H	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	2606	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		857			Ser-rich.		Q01720|Q5T583|Q9UC71	Silent	SNP	ENST00000368799.1	37	c.2571C>T	CCDS30860.1																																																																																				0.592	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		161	220	0	0	0	1	0	161	220				
ASXL1	171023	broad.mit.edu	37	20	31022345	31022345	+	Silent	SNP	C	C	T	rs199829982		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr20:31022345C>T	ENST00000375687.4	+	13	2254	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_ENST00000306058.5_Silent_p.G605G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	610	Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.Q592fs*5(1)|p.G610G(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"""F, N, Mis"""		"""MDS, CMML"""																																	ENST00000375687.4				Rec	yes		20	20q11.1	171023	"""F, N, Mis"""	additional sex combs like 1			L			"""MDS, CMML"""		2	Deletion - Frameshift(1)|Substitution - coding silent(1)	p.Q592fs*5(1)|p.G610G(1)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						c.(1828-1830)ggC>ggT		additional sex combs like 1 (Drosophila)		C		1,4405		0,1,2202	29.0	31.0	30.0		1830	-10.8	0.5	20		30	1,8599		0,1,4299	no	coding-synonymous	ASXL1	NM_015338.5		0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154		610/1542	31022345	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	171023				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	g.chr20:31022345C>T	AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.1830C>T	20.37:g.31022345C>T						ASXL1_ENST00000306058.5_Silent_p.G605G	p.G610G	NM_015338.5	NP_056153.2	Q8IXJ9	ASXL1_HUMAN			13	2254	+			610					B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	c.1830C>T	CCDS13201.1																																																																																				0.632	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338		35	39	0	0	0	1	0	35	39				
GRIN2A	2903	broad.mit.edu	37	16	10031896	10031896	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:10031896C>G	ENST00000396573.2	-	4	1236	c.927G>C	c.(925-927)aaG>aaC	p.K309N	GRIN2A_ENST00000330684.3_Missense_Mutation_p.K309N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000566670.1_5'Flank|GRIN2A_ENST00000562109.1_Missense_Mutation_p.K309N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K152N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	309					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGTAGGAGAACTTCTCCAGCA	0.572																																						ENST00000396573.2																			0				NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198						c.(925-927)aaG>aaC		glutamate receptor, ionotropic, N-methyl D-aspartate 2A	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						79.0	65.0	69.0					16																	10031896		2197	4300	6497	SO:0001583	missense	0				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10031896C>G		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.927G>C	16.37:g.10031896C>G	ENSP00000379818:p.Lys309Asn					GRIN2A_ENST00000562109.1_Missense_Mutation_p.K309N|GRIN2A_ENST00000535259.1_Missense_Mutation_p.K152N|GRIN2A_ENST00000396575.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000404927.2_Missense_Mutation_p.K309N|GRIN2A_ENST00000330684.3_Missense_Mutation_p.K309N	p.K309N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN			4	1236	-			309					O00669|Q17RZ6	Missense_Mutation	SNP	ENST00000396573.2	37	c.927G>C	CCDS10539.1	.	.	.	.	.	.	.	.	.	.	c	14.85	2.658787	0.47467	.	.	ENSG00000183454	ENST00000396573;ENST00000404927;ENST00000535259;ENST00000330684;ENST00000396575	T;T;T;T;T	0.07567	3.18;3.18;3.18;3.18;3.18	5.2	0.767	0.18482	.	0.317437	0.37577	N	0.002032	T	0.09024	0.0223	L	0.51422	1.61	0.34732	D	0.729857	B;B;B	0.30146	0.082;0.27;0.005	B;B;B	0.38755	0.085;0.281;0.013	T	0.22695	-1.0209	9	.	.	.	.	5.679	0.17765	0.0:0.5177:0.2633:0.2189	.	152;309;309	F5GZ52;Q17RZ6;Q12879	.;.;NMDE1_HUMAN	N	309;309;152;309;309	ENSP00000379818:K309N;ENSP00000385872:K309N;ENSP00000441572:K152N;ENSP00000332549:K309N;ENSP00000379820:K309N	.	K	-	3	2	GRIN2A	9939397	0.650000	0.27331	0.249000	0.24280	0.954000	0.61252	-0.110000	0.10824	-0.006000	0.14370	0.561000	0.74099	AAG		0.572	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			6	37	0	0	0	1	0	6	37				
PRDM16	63976	broad.mit.edu	37	1	3328822	3328822	+	Silent	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:3328822C>T	ENST00000270722.5	+	9	2110	c.2061C>T	c.(2059-2061)ggC>ggT	p.G687G	PRDM16_ENST00000378391.2_Silent_p.G687G|PRDM16_ENST00000442529.2_Silent_p.G687G|PRDM16_ENST00000511072.1_Silent_p.G688G|PRDM16_ENST00000378398.3_Silent_p.G688G|PRDM16_ENST00000514189.1_Silent_p.G688G|PRDM16_ENST00000441472.2_Silent_p.G687G|PRDM16_ENST00000512462.1_3'UTR			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	687	Interaction with CTBP1 and CTBP2. {ECO:0000250}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTGCAACGGGCGCCGCCGGGG	0.657			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(2062-2064)ggC>ggT		PR domain containing 16							49.0	60.0	56.0					1																	3328822		2008	4160	6168	SO:0001819	synonymous_variant	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328822C>T	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2061C>T	1.37:g.3328822C>T						PRDM16_ENST00000442529.2_Silent_p.G687G|PRDM16_ENST00000441472.2_Silent_p.G687G|PRDM16_ENST00000514189.1_Silent_p.G688G|PRDM16_ENST00000511072.1_Silent_p.G688G|PRDM16_ENST00000378391.2_Silent_p.G687G|PRDM16_ENST00000270722.5_Silent_p.G687G|PRDM16_ENST00000512462.1_3'UTR	p.G688G			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	10	2146	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	687			Interaction with CTBP1 and CTBP2 (By similarity).		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Silent	SNP	ENST00000270722.5	37	c.2064C>T	CCDS41236.2																																																																																				0.657	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		18	43	0	0	0	1	0	18	43				
TMEFF2	23671	broad.mit.edu	37	2	193059095	193059095	+	Silent	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:193059095G>A	ENST00000272771.5	-	1	1340	c.156C>T	c.(154-156)acC>acT	p.T52T	TMEFF2_ENST00000409056.3_Silent_p.T52T|TMEFF2_ENST00000392314.1_Silent_p.T52T	NM_016192.2	NP_057276.2	Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	52						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			AATTCCAGCCGGTGGGCGTTT	0.602																																					Pancreas(50;1277 1381 28487 47072)	ENST00000409056.3																			0				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						c.(154-156)acC>acT		transmembrane protein with EGF-like and two follistatin-like domains 2							77.0	81.0	80.0					2																	193059095		2203	4300	6503	SO:0001819	synonymous_variant	23671					extracellular region|integral to membrane		g.chr2:193059095G>A	AB017269	CCDS2314.1	2q32.3	2010-05-04			ENSG00000144339	ENSG00000144339			11867	protein-coding gene	gene with protein product	"""transmembrane protein TENB2"", ""tomoregulin"", ""cancer/testis antigen family 120, member 2"""	605734				10903839	Standard	NM_016192		Approved	TENB2, HPP1, TR, TPEF, CT120.2	uc002utc.3	Q9UIK5	OTTHUMG00000132723	ENST00000272771.5:c.156C>T	2.37:g.193059095G>A						TMEFF2_ENST00000392314.1_Silent_p.T52T|TMEFF2_ENST00000272771.5_Silent_p.T52T	p.T52T			Q9UIK5	TEFF2_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0835)		1	155	-			52					Q2FA44|Q4ZFW4|Q53H90|Q53RE1|Q8N2R5|Q9NR15|Q9NSS5|Q9P2Y9|Q9UK65	Silent	SNP	ENST00000272771.5	37	c.156C>T	CCDS2314.1																																																																																				0.602	TMEFF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256065.2	NM_016192		4	101	0	0	0	1	0	4	101				
FGA	2243	broad.mit.edu	37	4	155507284	155507284	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr4:155507284G>T	ENST00000302053.3	-	5	1375	c.1297C>A	c.(1297-1299)Ctg>Atg	p.L433M	FGA_ENST00000403106.3_Missense_Mutation_p.L433M	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	433					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAAGTGACCAGTTTTTCTGTG	0.498																																					NSCLC(143;340 1922 20892 22370 48145)	ENST00000302053.3																			0				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73						c.(1297-1299)Ctg>Atg		fibrinogen alpha chain	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)						180.0	189.0	186.0					4																	155507284		2203	4300	6503	SO:0001583	missense	2243				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155507284G>T		CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1297C>A	4.37:g.155507284G>T	ENSP00000306361:p.Leu433Met					FGA_ENST00000403106.3_Missense_Mutation_p.L433M	p.L433M	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN			5	1375	-	all_hematologic(180;0.215)	Renal(120;0.0458)	433					A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	c.1297C>A	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	15.61	2.884242	0.51908	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	T;T	0.60040	0.22;2.64	5.89	-1.32	0.09201	.	4.073680	0.00780	N	0.001269	T	0.73442	0.3587	M	0.78916	2.43	0.09310	N	1	D;D	0.76494	0.999;0.998	D;D	0.69479	0.964;0.915	T	0.55780	-0.8087	10	0.72032	D	0.01	.	5.367	0.16119	0.4415:0.2612:0.2973:0.0	.	433;433	P02671-2;P02671	.;FIBA_HUMAN	M	433	ENSP00000306361:L433M;ENSP00000385981:L433M	ENSP00000306361:L433M	L	-	1	2	FGA	155726734	0.022000	0.18835	0.099000	0.21106	0.875000	0.50365	-0.075000	0.11431	-0.083000	0.12618	0.655000	0.94253	CTG		0.498	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508		34	65	1	0	4.23469e-30	1	4.87793e-30	34	65				
LSM11	134353	broad.mit.edu	37	5	157181082	157181082	+	Missense_Mutation	SNP	T	T	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr5:157181082T>G	ENST00000286307.5	+	3	715	c.659T>G	c.(658-660)cTg>cGg	p.L220R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	220					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	histone pre-mRNA 3'end processing complex (GO:0071204)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U7 snRNP (GO:0005683)	U7 snRNA binding (GO:0071209)			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GATTCTTCACTGACTCTCACT	0.473																																						ENST00000286307.5																			0				breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7						c.(658-660)cTg>cGg		LSM11, U7 small nuclear RNA associated							131.0	109.0	117.0					5																	157181082		2203	4300	6503	SO:0001583	missense	134353				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding	g.chr5:157181082T>G	AK095592	CCDS4342.1	5q33.3	2008-02-05	2004-04-28		ENSG00000155858	ENSG00000155858			30860	protein-coding gene	gene with protein product			"""LSM11 homolog, U7 small nuclear RNA associated (S. cerevisiae)"""			12975319	Standard	NM_173491		Approved	FLJ38273	uc003lxe.1	P83369	OTTHUMG00000130255	ENST00000286307.5:c.659T>G	5.37:g.157181082T>G	ENSP00000286307:p.Leu220Arg						p.L220R	NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)		3	715	+	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	220					A0AVQ1|Q7Z7P0|Q8N975	Missense_Mutation	SNP	ENST00000286307.5	37	c.659T>G	CCDS4342.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.711253	0.89112	.	.	ENSG00000155858	ENST00000286307	T	0.46451	0.87	6.17	6.17	0.99709	Like-Sm ribonucleoprotein (LSM)-related domain (2);	0.000000	0.85682	D	0.000000	T	0.57917	0.2086	L	0.41236	1.265	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.59252	-0.7489	10	0.72032	D	0.01	-9.4491	16.8222	0.85835	0.0:0.0:0.0:1.0	.	220	P83369	LSM11_HUMAN	R	220	ENSP00000286307:L220R	ENSP00000286307:L220R	L	+	2	0	LSM11	157113660	1.000000	0.71417	0.938000	0.37757	0.995000	0.86356	7.272000	0.78516	2.371000	0.80710	0.533000	0.62120	CTG		0.473	LSM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252580.2	NM_173491		30	21	0	0	0	1	0	30	21				
TNPO3	23534	broad.mit.edu	37	7	128694737	128694737	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:128694737C>A	ENST00000265388.5	-	1	231	c.88G>T	c.(88-90)Gcc>Tcc	p.A30S	TNPO3_ENST00000482320.1_5'UTR|TNPO3_ENST00000471166.1_Missense_Mutation_p.A30S|TNPO3_ENST00000393245.1_Missense_Mutation_p.A30S|TNPO3_ENST00000471234.1_Missense_Mutation_p.A30S			Q9Y5L0	TNPO3_HUMAN	transportin 3	30					splicing factor protein import into nucleus (GO:0035048)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	receptor activity (GO:0004872)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CAAAAAGAGGCGCGCTCCTTT	0.652																																					Pancreas(147;583 2585 39696 52331)	ENST00000393245.1																			0				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						c.(88-90)Gcc>Tcc		transportin 3							68.0	60.0	63.0					7																	128694737		2203	4300	6503	SO:0001583	missense	23534				splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity	g.chr7:128694737C>A	AF145029	CCDS5809.1, CCDS55162.1	7q32.2	2014-02-03			ENSG00000064419	ENSG00000064419		"""Importins"""	17103	protein-coding gene	gene with protein product	"""importin 12"""	610032	"""limb girdle muscular dystrophy 1F (autosomal dominant)"""	LGMD1F		10366588, 10713112, 23543484, 23667635	Standard	NM_012470		Approved	TRN-SR, MTR10A, TRN-SR2, IPO12	uc003vol.2	Q9Y5L0	OTTHUMG00000158409	ENST00000265388.5:c.88G>T	7.37:g.128694737C>A	ENSP00000265388:p.Ala30Ser					TNPO3_ENST00000265388.5_Missense_Mutation_p.A30S|TNPO3_ENST00000482320.1_5'UTR|TNPO3_ENST00000471166.1_Missense_Mutation_p.A30S|TNPO3_ENST00000471234.1_Missense_Mutation_p.A30S	p.A30S	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN			1	461	-			30					A4D1K9|C9IZM0|Q6NUM1|Q96G71|Q96GU9|Q9Y3R2	Missense_Mutation	SNP	ENST00000265388.5	37	c.88G>T	CCDS5809.1	.	.	.	.	.	.	.	.	.	.	C	35	5.467436	0.96257	.	.	ENSG00000064419	ENST00000393245;ENST00000265388;ENST00000471234;ENST00000471166	D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79	5.51	4.61	0.57282	Armadillo-like helical (1);Armadillo-type fold (1);	0.057150	0.64402	N	0.000001	D	0.93032	0.7782	H	0.94385	3.53	0.58432	D	0.999997	D;D;D	0.89917	1.0;0.997;1.0	D;P;D	0.79784	0.992;0.904;0.993	D	0.94393	0.7616	10	0.66056	D	0.02	-9.7408	13.5308	0.61621	0.1571:0.8429:0.0:0.0	.	30;30;30	C9IZM0;C9J7E5;Q9Y5L0	.;.;TNPO3_HUMAN	S	30	ENSP00000376936:A30S;ENSP00000265388:A30S;ENSP00000418646:A30S;ENSP00000418267:A30S	ENSP00000265388:A30S	A	-	1	0	TNPO3	128481973	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.802000	0.62539	1.396000	0.46663	0.655000	0.94253	GCC		0.652	TNPO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350929.1	NM_012470		19	14	1	0	2.4624e-09	1	2.69974e-09	19	14				
ACTL9	284382	broad.mit.edu	37	19	8808029	8808029	+	Silent	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr19:8808029G>A	ENST00000324436.3	-	1	1143	c.1023C>T	c.(1021-1023)tgC>tgT	p.C341C		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	341						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)		p.C341C(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						AGGACCCACCGCAGAGAAGCA	0.672																																						ENST00000324436.3																			1	Substitution - coding silent(1)	p.C341C(1)	NS(1)	NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						c.(1021-1023)tgC>tgT		actin-like 9							33.0	34.0	34.0					19																	8808029		2199	4293	6492	SO:0001819	synonymous_variant	284382					cytoplasm|cytoskeleton		g.chr19:8808029G>A		CCDS12207.1	19p13.2	2014-08-08			ENSG00000181786	ENSG00000181786			28494	protein-coding gene	gene with protein product							Standard	NM_178525		Approved	MGC33407	uc002mkl.2	Q8TC94	OTTHUMG00000182194	ENST00000324436.3:c.1023C>T	19.37:g.8808029G>A							p.C341C	NM_178525.3	NP_848620.2	Q8TC94	ACTL9_HUMAN			1	1143	-			341					A8K893|Q6X960	Silent	SNP	ENST00000324436.3	37	c.1023C>T	CCDS12207.1																																																																																				0.672	ACTL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459953.1	NM_178525		8	36	0	0	0	1	0	8	36				
CADPS2	93664	broad.mit.edu	37	7	122111518	122111518	+	Silent	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:122111518C>G	ENST00000449022.2	-	14	2116	c.2097G>C	c.(2095-2097)ctG>ctC	p.L699L	CADPS2_ENST00000334010.7_Silent_p.L700L|CADPS2_ENST00000313070.7_Silent_p.L696L|CADPS2_ENST00000412584.2_Silent_p.L696L	NM_017954.10	NP_060424.9	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	699					cellular response to starvation (GO:0009267)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasmic membrane-bounded vesicle (GO:0016023)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AATGTTCCATCAGTTCTGCAA	0.478																																						ENST00000334010.7																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						c.(2098-2100)ctG>ctC		Ca++-dependent secretion activator 2							104.0	107.0	106.0					7																	122111518		1976	4181	6157	SO:0001819	synonymous_variant	93664				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding	g.chr7:122111518C>G		CCDS47691.1, CCDS55158.1	7q31.32	2013-01-10	2008-08-28		ENSG00000081803	ENSG00000081803		"""Pleckstrin homology (PH) domain containing"""	16018	protein-coding gene	gene with protein product		609978	"""Ca++-dependent activator protein for secretion 2"""				Standard	NM_017954		Approved		uc010lkq.3	Q86UW7	OTTHUMG00000157093	ENST00000449022.2:c.2097G>C	7.37:g.122111518C>G						CADPS2_ENST00000412584.2_Silent_p.L696L|CADPS2_ENST00000449022.2_Silent_p.L699L|CADPS2_ENST00000313070.7_Silent_p.L696L	p.L700L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN			13	2521	-			699					A4D0X3|B7ZM56|Q658Q2|Q7Z5T7|Q8IZW9|Q8N7M4|Q9H6P4|Q9HCI1|Q9NWK8	Silent	SNP	ENST00000449022.2	37	c.2100G>C	CCDS55158.1	.	.	.	.	.	.	.	.	.	.	C	9.068	0.996121	0.19043	.	.	ENSG00000081803	ENST00000397721	.	.	.	6.17	2.14	0.27477	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.50541	-0.8816	4	.	.	.	-11.3774	8.6719	0.34156	0.0:0.6385:0.2342:0.1273	.	.	.	.	H	345	.	.	D	-	1	0	CADPS2	121898754	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.973000	0.29422	0.463000	0.27118	0.655000	0.94253	GAT		0.478	CADPS2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000347414.2	NM_017954		11	15	0	0	0	1	0	11	15				
IL3RA	3563	broad.mit.edu	37	X	1484095	1484095	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:1484095G>A	ENST00000331035.4	+	9	1173	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	IL3RA_ENST00000381469.2_Missense_Mutation_p.R197Q	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	275					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATAAGAGCCCGGGAAAGAGTG	0.577																																						ENST00000331035.4																			0				lung(1)|skin(2)	3						c.(823-825)cGg>cAg		interleukin 3 receptor, alpha (low affinity)	Sargramostim(DB00020)	G	GLN/ARG	1,4401		0,1,2200	75.0	87.0	83.0		824	-0.7	0.0	X	dbSNP_134	83	0,8582		0,0,4291	no	missense	IL3RA	NM_002183.2	43	0,1,6491	AA,AG,GG		0.0,0.0227,0.0077	benign	275/379	1484095	1,12983	2201	4291	6492	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1484095G>A	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.824G>A	X.37:g.1484095G>A	ENSP00000327890:p.Arg275Gln					IL3RA_ENST00000381469.2_Missense_Mutation_p.R197Q	p.R275Q	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN			9	1173	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	275					A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.824G>A	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	0.756	-0.771096	0.02974	2.27E-4	0.0	ENSG00000185291	ENST00000331035;ENST00000381469	D;D	0.96651	-2.08;-4.08	0.355	-0.71	0.11234	Fibronectin, type III (1);Immunoglobulin-like fold (1);	661.220000	0.01380	U	0.012919	D	0.88599	0.6480	N	0.03608	-0.345	0.09310	N	1	B;B	0.12630	0.006;0.003	B;B	0.11329	0.006;0.001	T	0.81638	-0.0842	9	0.35671	T	0.21	-5.3156	.	.	.	.	196;275	P26951-2;P26951	.;IL3RA_HUMAN	Q	275;197	ENSP00000327890:R275Q;ENSP00000370878:R197Q	ENSP00000327890:R275Q	R	+	2	0	IL3RA	1444095	0.000000	0.05858	0.001000	0.08648	0.477000	0.33069	-0.649000	0.05384	-0.492000	0.06687	0.081000	0.15443	CGG		0.577	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			18	57	0	0	0	1	0	18	57				
DEF8	54849	broad.mit.edu	37	16	90028534	90028534	+	Splice_Site	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:90028534G>A	ENST00000268676.7	+	9	1193		c.e9+1		DEF8_ENST00000567874.1_Splice_Site|DEF8_ENST00000569453.1_Splice_Site|DEF8_ENST00000563594.1_Splice_Site|DEF8_ENST00000570182.1_Splice_Site|DEF8_ENST00000563795.1_Splice_Site	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)						intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GGAGATTCGCGTGAGGCTGGG	0.667																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.e9+1		differentially expressed in FDCP 8 homolog (mouse)							31.0	25.0	27.0					16																	90028534		2198	4300	6498	SO:0001630	splice_region_variant	54849				intracellular signal transduction		zinc ion binding	g.chr16:90028534G>A	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.1104+1G>A	16.37:g.90028534G>A						DEF8_ENST00000563795.1_Splice_Site|DEF8_ENST00000570182.1_Splice_Site|DEF8_ENST00000567874.1_Splice_Site|DEF8_ENST00000268676.7_Splice_Site|DEF8_ENST00000569453.1_Splice_Site		NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	9	1918	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)						B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Splice_Site	SNP	ENST00000268676.7	37		CCDS10989.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.003013	0.35320	.	.	ENSG00000140995	ENST00000268676	.	.	.	3.74	3.74	0.42951	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.0791	0.80989	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DEF8	88556035	1.000000	0.71417	1.000000	0.80357	0.279000	0.26890	8.785000	0.91822	2.086000	0.62901	0.491000	0.48974	.		0.667	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514	Intron	4	23	0	0	0	1	0	4	23				
RNF186	54546	broad.mit.edu	37	1	20141158	20141158	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:20141158C>T	ENST00000375121.2	-	1	613	c.437G>A	c.(436-438)aGt>aAt	p.S146N	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	146						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGTTTGCACTTACTTCATC	0.607																																						ENST00000375121.2																			0				kidney(1)|lung(3)|urinary_tract(1)	5						c.(436-438)aGt>aAt		ring finger protein 186							97.0	115.0	109.0					1																	20141158		2203	4300	6503	SO:0001583	missense	54546					integral to membrane	zinc ion binding	g.chr1:20141158C>T		CCDS199.1	1p36.13	2008-02-05			ENSG00000178828	ENSG00000178828		"""RING-type (C3HC4) zinc fingers"""	25978	protein-coding gene	gene with protein product	"""hypothetical protein FLJ20225"""					12477932	Standard	NM_019062		Approved	FLJ20225	uc001bcr.3	Q9NXI6	OTTHUMG00000002709	ENST00000375121.2:c.437G>A	1.37:g.20141158C>T	ENSP00000364263:p.Ser146Asn					RP11-91K11.2_ENST00000454736.1_RNA	p.S146N	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	1	613	-		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)	146					Q53GE0	Missense_Mutation	SNP	ENST00000375121.2	37	c.437G>A	CCDS199.1	.	.	.	.	.	.	.	.	.	.	C	4.061	0.009104	0.07912	.	.	ENSG00000178828	ENST00000375121	T	0.33654	1.4	5.71	1.62	0.23740	.	0.685525	0.13903	N	0.354741	T	0.16599	0.0399	N	0.04880	-0.145	0.09310	N	1	B	0.15930	0.015	B	0.16722	0.016	T	0.21449	-1.0245	10	0.33940	T	0.23	-3.5764	6.7307	0.23381	0.0:0.5579:0.2415:0.2006	.	146	Q9NXI6	RN186_HUMAN	N	146	ENSP00000364263:S146N	ENSP00000364263:S146N	S	-	2	0	RNF186	20013745	0.001000	0.12720	0.099000	0.21106	0.196000	0.23810	0.214000	0.17541	0.317000	0.23160	0.655000	0.94253	AGT		0.607	RNF186-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007694.1	NM_019062		5	80	0	0	0	1	0	5	80				
AMOT	154796	broad.mit.edu	37	X	112022741	112022741	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:112022741T>C	ENST00000524145.1	-	11	2715	c.2641A>G	c.(2641-2643)Atc>Gtc	p.I881V	AMOT_ENST00000304758.1_Missense_Mutation_p.I472V|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371959.3_Missense_Mutation_p.I881V|AMOT_ENST00000371962.1_Missense_Mutation_p.I649V			Q4VCS5	AMOT_HUMAN	angiomotin	881					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ggaacagagatgggagcaaca	0.597																																						ENST00000371959.3																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						c.(2641-2643)Atc>Gtc		angiomotin							109.0	65.0	80.0					X																	112022741		2203	4300	6503	SO:0001583	missense	154796				actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	g.chrX:112022741T>C	AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2641A>G	X.37:g.112022741T>C	ENSP00000429013:p.Ile881Val					AMOT_ENST00000371962.1_Missense_Mutation_p.I649V|AMOT_ENST00000304758.1_Missense_Mutation_p.I472V|AMOT_ENST00000524145.1_Missense_Mutation_p.I881V	p.I881V	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN			10	2640	-			881					Q504X5|Q9HD27|Q9UPT1	Missense_Mutation	SNP	ENST00000524145.1	37	c.2641A>G	CCDS48154.1	.	.	.	.	.	.	.	.	.	.	T	10.49	1.365712	0.24684	.	.	ENSG00000126016	ENST00000304758;ENST00000371959;ENST00000371962;ENST00000524145;ENST00000432214	T;T;T;T	0.37915	1.17;2.3;2.55;2.3	5.2	1.43	0.22495	.	0.234355	0.32134	N	0.006537	T	0.21962	0.0529	L	0.44542	1.39	0.20821	N	0.999844	B	0.02656	0.0	B	0.01281	0.0	T	0.12656	-1.0539	10	0.28530	T	0.3	-0.72	0.9463	0.01366	0.1577:0.2934:0.16:0.3889	.	881	Q4VCS5	AMOT_HUMAN	V	472;881;649;881;121	ENSP00000305557:I472V;ENSP00000361027:I881V;ENSP00000361030:I649V;ENSP00000429013:I881V	ENSP00000305557:I472V	I	-	1	0	AMOT	111909397	0.893000	0.30496	0.950000	0.38849	0.700000	0.40528	0.247000	0.18179	0.232000	0.21100	0.430000	0.28490	ATC		0.597	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378570.1	NM_133265		14	4	0	0	0	1	0	14	4				
DDX23	9416	broad.mit.edu	37	12	49225958	49225958	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr12:49225958A>G	ENST00000308025.3	-	15	2046	c.1967T>C	c.(1966-1968)cTg>cCg	p.L656P		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	656	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|cis assembly of pre-catalytic spliceosome (GO:0000354)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U5 snRNP (GO:0005682)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CAAGATTGCCAGCAGCTTTTT	0.483																																						ENST00000308025.3																			0				NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						c.(1966-1968)cTg>cCg		DEAD (Asp-Glu-Ala-Asp) box polypeptide 23							77.0	78.0	78.0					12																	49225958		2203	4300	6503	SO:0001583	missense	9416					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding	g.chr12:49225958A>G	AF026402	CCDS8770.1	12q13.11	2013-07-16				ENSG00000174243		"""DEAD-boxes"""	17347	protein-coding gene	gene with protein product		612172	"""PRP28 homolog, yeast"""			9409622, 9539711	Standard	NM_004818		Approved	prp28, U5-100K, PRPF28, SNRNP100	uc001rsm.3	Q9BUQ8		ENST00000308025.3:c.1967T>C	12.37:g.49225958A>G	ENSP00000310723:p.Leu656Pro						p.L656P	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN			15	2046	-			656			Helicase C-terminal.		B2R600|B4DH15|O43188	Missense_Mutation	SNP	ENST00000308025.3	37	c.1967T>C	CCDS8770.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.703720	0.88924	.	.	ENSG00000174243	ENST00000308025	T	0.05996	3.36	6.17	6.17	0.99709	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000001	T	0.19087	0.0458	M	0.71920	2.185	0.80722	D	1	D	0.59357	0.985	P	0.55667	0.781	T	0.00364	-1.1787	10	0.36615	T	0.2	-11.8179	15.8048	0.78491	1.0:0.0:0.0:0.0	.	656	Q9BUQ8	DDX23_HUMAN	P	656	ENSP00000310723:L656P	ENSP00000310723:L656P	L	-	2	0	DDX23	47512225	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.915000	0.92740	2.371000	0.80710	0.533000	0.62120	CTG		0.483	DDX23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408897.2	NM_004818		24	52	0	0	0	1	0	24	52				
HS1BP3	64342	broad.mit.edu	37	2	20824556	20824556	+	Silent	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:20824556C>T	ENST00000304031.3	-	5	745	c.720G>A	c.(718-720)ggG>ggA	p.G240G		NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN	HCLS1 binding protein 3	240							phosphatidylinositol binding (GO:0035091)			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCAAAGAGCCCCTCATCAG	0.617																																						ENST00000304031.3																			0				endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15						c.(718-720)ggG>ggA		HCLS1 binding protein 3							74.0	81.0	79.0					2																	20824556		2203	4300	6503	SO:0001819	synonymous_variant	64342				cell communication		phosphatidylinositol binding	g.chr2:20824556C>T		CCDS1700.1	2p24.1	2006-08-15			ENSG00000118960	ENSG00000118960			24979	protein-coding gene	gene with protein product		609359				10590261, 15699368	Standard	NM_022460		Approved	HS1-BP3,FLJ14249	uc002rdw.1	Q53T59	OTTHUMG00000122099	ENST00000304031.3:c.720G>A	2.37:g.20824556C>T							p.G240G	NM_022460.3	NP_071905.3	Q53T59	H1BP3_HUMAN			5	745	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		240					B2RAW2|D6W529|Q86VC2|Q8N367	Silent	SNP	ENST00000304031.3	37	c.720G>A	CCDS1700.1	.	.	.	.	.	.	.	.	.	.	C	2.406	-0.336537	0.05278	.	.	ENSG00000118960	ENST00000445102	.	.	.	4.7	3.83	0.44106	.	.	.	.	.	T	0.58878	0.2153	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55673	-0.8104	4	.	.	.	-8.0781	8.6233	0.33875	0.0:0.897:0.0:0.103	.	.	.	.	T	33	.	.	A	-	1	0	HS1BP3	20688037	0.026000	0.19158	0.910000	0.35882	0.028000	0.11728	-0.004000	0.12878	1.202000	0.43218	0.655000	0.94253	GCT		0.617	HS1BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242863.1	NM_022460		4	45	0	0	0	1	0	4	45				
PPP1R3A	5506	broad.mit.edu	37	7	113558913	113558913	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:113558913C>G	ENST00000284601.3	-	1	207	c.139G>C	c.(139-141)Gat>Cat	p.D47H		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	47					glycogen metabolic process (GO:0005977)	integral component of membrane (GO:0016021)		p.D47Y(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCAGAAGAATCAGAACCTCGT	0.368																																						ENST00000284601.3																			1	Substitution - Missense(1)	p.D47Y(1)	kidney(1)	NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						c.(139-141)Gat>Cat		protein phosphatase 1, regulatory subunit 3A							83.0	81.0	82.0					7																	113558913		2203	4300	6503	SO:0001583	missense	5506				glycogen metabolic process	integral to membrane		g.chr7:113558913C>G	AF024578	CCDS5759.1	7q31.1	2012-04-17	2011-10-04	2001-07-02	ENSG00000154415	ENSG00000154415	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9291	protein-coding gene	gene with protein product	"""glycogen-associated regulatory subunit of protein phosphatase-1"", ""protein phosphatase 1 regulatory subunit GM"""	600917	"""protein phosphatase 1, regulatory (inhibitor) subunit 3A (glycogen and sarcoplasmic reticulum binding subunit, skeletal muscle)"", ""protein phosphatase 1, regulatory (inhibitor) subunit 3A"""	PPP1R3		7926294	Standard	NM_002711		Approved	GM	uc010ljy.1	Q16821	OTTHUMG00000156944	ENST00000284601.3:c.139G>C	7.37:g.113558913C>G	ENSP00000284601:p.Asp47His						p.D47H	NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN			1	207	-			47					A0AVQ2|A4D0T6|O43476|Q75LN8|Q7KYM8|Q86UI6	Missense_Mutation	SNP	ENST00000284601.3	37	c.139G>C	CCDS5759.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185341	0.57909	.	.	ENSG00000154415	ENST00000284601	T	0.17054	2.3	6.17	6.17	0.99709	.	0.607817	0.17550	N	0.170216	T	0.27313	0.0670	L	0.50333	1.59	0.26332	N	0.977503	D	0.59357	0.985	P	0.49502	0.613	T	0.07139	-1.0788	10	0.49607	T	0.09	-0.1211	17.0623	0.86550	0.1275:0.8725:0.0:0.0	.	47	Q16821	PPR3A_HUMAN	H	47	ENSP00000284601:D47H	ENSP00000284601:D47H	D	-	1	0	PPP1R3A	113346149	0.532000	0.26346	1.000000	0.80357	0.998000	0.95712	2.154000	0.42291	2.941000	0.99782	0.655000	0.94253	GAT		0.368	PPP1R3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346724.1	NM_002711		17	129	0	0	0	1	0	17	129				
PROKR1	10887	broad.mit.edu	37	2	68882361	68882361	+	Missense_Mutation	SNP	C	C	T	rs200160500		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:68882361C>T	ENST00000303786.3	+	3	1255	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	PROKR1_ENST00000394342.2_Missense_Mutation_p.R279C			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	279					negative regulation of apoptotic process (GO:0043066)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide Y receptor activity (GO:0004983)			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTGCGCTGCCGCAGGAAGAC	0.622																																						ENST00000303786.3																			0				endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(835-837)Cgc>Tgc		prokineticin receptor 1							75.0	64.0	68.0					2																	68882361		2203	4300	6503	SO:0001583	missense	10887					integral to membrane|plasma membrane	neuropeptide Y receptor activity	g.chr2:68882361C>T	AF506287	CCDS1889.1	2p14	2012-08-08	2006-02-15	2006-02-15	ENSG00000169618	ENSG00000169618		"""GPCR / Class A : Prokineticin receptors"""	4524	protein-coding gene	gene with protein product		607122	"""G protein-coupled receptor 73"""	GPR73		10760605	Standard	NM_138964		Approved	PKR1, ZAQ, GPR73a	uc010yqj.2	Q8TCW9	OTTHUMG00000129567	ENST00000303786.3:c.835C>T	2.37:g.68882361C>T	ENSP00000303775:p.Arg279Cys					PROKR1_ENST00000394342.2_Missense_Mutation_p.R279C	p.R279C			Q8TCW9	PKR1_HUMAN			3	1255	+			279					A5JUU2|Q53QT9|Q8NFJ7	Missense_Mutation	SNP	ENST00000303786.3	37	c.835C>T	CCDS1889.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.132043	0.77662	.	.	ENSG00000169618	ENST00000303786;ENST00000394342	T;T	0.72942	-0.7;-0.7	4.55	3.65	0.41850	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85022	0.5602	M	0.88775	2.98	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87604	0.2499	10	0.87932	D	0	.	12.1952	0.54292	0.1717:0.8283:0.0:0.0	.	279	Q8TCW9	PKR1_HUMAN	C	279	ENSP00000303775:R279C;ENSP00000377874:R279C	ENSP00000303775:R279C	R	+	1	0	PROKR1	68735865	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.589000	0.53972	1.467000	0.48044	0.563000	0.77884	CGC		0.622	PROKR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251760.2			23	18	0	0	0	1	0	23	18				
DMXL1	1657	broad.mit.edu	37	5	118525452	118525452	+	Silent	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr5:118525452G>A	ENST00000311085.8	+	29	7265	c.7185G>A	c.(7183-7185)ccG>ccA	p.P2395P	DMXL1_ENST00000539542.1_Silent_p.P2395P	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2395										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTTTTAGGCCGTCAAAAATGT	0.408																																						ENST00000311085.8																			0				breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86						c.(7183-7185)ccG>ccA		Dmx-like 1							105.0	106.0	105.0					5																	118525452		2202	4300	6502	SO:0001819	synonymous_variant	1657							g.chr5:118525452G>A	AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.7185G>A	5.37:g.118525452G>A						DMXL1_ENST00000539542.1_Silent_p.P2395P	p.P2395P	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)	29	7265	+		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)	2395						Silent	SNP	ENST00000311085.8	37	c.7185G>A	CCDS4125.1																																																																																				0.408	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250862.1	NM_005509		3	94	0	0	0	1	0	3	94				
CWF19L1	55280	broad.mit.edu	37	10	102005616	102005616	+	Missense_Mutation	SNP	G	G	A	rs199591943		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:102005616G>A	ENST00000354105.4	-	9	990	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.R57C	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	302							catalytic activity (GO:0003824)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GTGGATGAACGCTTCCTTCCC	0.398													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21239	0.0		0.0	False		,,,				2504	0.0					ENST00000354105.4																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17						c.(904-906)Cgt>Tgt		CWF19-like 1, cell cycle control (S. pombe)							141.0	133.0	136.0					10																	102005616		2203	4300	6503	SO:0001583	missense	55280						catalytic activity	g.chr10:102005616G>A	AK001860	CCDS7489.1	10q24.31	2008-11-24			ENSG00000095485	ENSG00000095485			25613	protein-coding gene	gene with protein product						14702039	Standard	NM_018294		Approved	FLJ10998	uc001kqq.1	Q69YN2	OTTHUMG00000018901	ENST00000354105.4:c.904C>T	10.37:g.102005616G>A	ENSP00000326411:p.Arg302Cys					CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.R57C	p.R302C	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)	9	990	-		Colorectal(252;0.117)	302					B4DHX1|D3DR66|Q5W0I3|Q96HC3|Q9H865|Q9NV13	Missense_Mutation	SNP	ENST00000354105.4	37	c.904C>T	CCDS7489.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	22.0	4.232390	0.79688	.	.	ENSG00000095485	ENST00000354105;ENST00000370379	T;T	0.26810	2.07;1.71	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.57359	0.2048	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79108	0.992;0.988	T	0.60924	-0.7166	10	0.72032	D	0.01	-11.2439	17.8645	0.88792	0.0:0.0:1.0:0.0	.	165;302	Q69YN2-3;Q69YN2	.;C19L1_HUMAN	C	302;57	ENSP00000326411:R302C;ENSP00000359405:R57C	ENSP00000326411:R302C	R	-	1	0	CWF19L1	101995606	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.951000	0.56684	2.894000	0.99253	0.591000	0.81541	CGT		0.398	CWF19L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_018294		37	32	0	0	0	1	0	37	32				
FAT3	120114	broad.mit.edu	37	11	92592421	92592421	+	Missense_Mutation	SNP	G	G	A	rs372126226		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:92592421G>A	ENST00000298047.6	+	20	11608	c.11591G>A	c.(11590-11592)cGt>cAt	p.R3864H	FAT3_ENST00000409404.2_Missense_Mutation_p.R3864H|FAT3_ENST00000533797.1_Missense_Mutation_p.R199H|FAT3_ENST00000525166.1_Missense_Mutation_p.R3714H			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3864	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTAGCTCTGCGTCTTCGAACA	0.393										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(11590-11592)cGt>cAt		FAT atypical cadherin 3		G	HIS/ARG	0,3700		0,0,1850	88.0	84.0	85.0		11591	5.2	1.0	11		85	2,8190		0,2,4094	no	missense	FAT3	NM_001008781.2	29	0,2,5944	AA,AG,GG		0.0244,0.0,0.0168	probably-damaging	3864/4558	92592421	2,11890	1850	4096	5946	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92592421G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11591G>A	11.37:g.92592421G>A	ENSP00000298047:p.Arg3864His	TCGA Ovarian(4;0.039)				FAT3_ENST00000533797.1_Missense_Mutation_p.R199H|FAT3_ENST00000409404.2_Missense_Mutation_p.R3864H|FAT3_ENST00000525166.1_Missense_Mutation_p.R3714H	p.R3864H			Q8TDW7	FAT3_HUMAN			20	11608	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	3864			Laminin G-like.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.11591G>A		.	.	.	.	.	.	.	.	.	.	G	31	5.091737	0.94149	0.0	2.44E-4	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	T;T;T;T	0.69806	-0.43;-0.43;-0.43;-0.43	5.15	5.15	0.70609	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);	.	.	.	.	D	0.82692	0.5092	M	0.78456	2.415	0.80722	D	1	D;D	0.89917	1.0;0.959	D;B	0.91635	0.999;0.348	D	0.83779	0.0224	9	0.54805	T	0.06	.	18.9877	0.92779	0.0:0.0:1.0:0.0	.	3864;3864	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	H	3864;3864;3714;199	ENSP00000298047:R3864H;ENSP00000387040:R3864H;ENSP00000432586:R3714H;ENSP00000436399:R199H	ENSP00000298047:R3864H	R	+	2	0	FAT3	92232069	1.000000	0.71417	0.995000	0.50966	0.990000	0.78478	9.338000	0.96553	2.580000	0.87095	0.655000	0.94253	CGT		0.393	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		16	15	0	0	0	1	0	16	15				
MXRA5	25878	broad.mit.edu	37	X	3227766	3227766	+	Missense_Mutation	SNP	G	G	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrX:3227766G>C	ENST00000217939.6	-	7	8632	c.8478C>G	c.(8476-8478)caC>caG	p.H2826Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2826	Ig-like C2-type 12.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTCAGAAGACGTGGATGTAAG	0.458																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(8476-8478)caC>caG		matrix-remodelling associated 5							65.0	59.0	61.0					X																	3227766		2203	4300	6503	SO:0001583	missense	25878					extracellular region		g.chrX:3227766G>C	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.8478C>G	X.37:g.3227766G>C	ENSP00000217939:p.His2826Gln						p.H2826Q	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			7	8632	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	2826			Ig-like C2-type 12.		Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	c.8478C>G	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	G	5.794	0.330811	0.10956	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64438	-0.1	3.85	-3.32	0.04973	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.42172	U	0.000759	T	0.39172	0.1068	N	0.01761	-0.735	0.24585	N	0.993858	P	0.50066	0.931	P	0.53809	0.735	T	0.53767	-0.8392	10	0.15499	T	0.54	.	12.31	0.54924	0.3449:0.0:0.6551:0.0	.	2826	Q9NR99	MXRA5_HUMAN	Q	2826	ENSP00000217939:H2826Q	ENSP00000217939:H2826Q	H	-	3	2	MXRA5	3237766	0.989000	0.36119	0.078000	0.20375	0.025000	0.11179	0.122000	0.15687	-0.753000	0.04721	-1.329000	0.01275	CAC		0.458	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		14	2	0	0	0	1	0	14	2				
MYO19	80179	broad.mit.edu	37	17	34854317	34854317	+	Silent	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:34854317C>T	ENST00000431794.3	-	25	3072	c.2550G>A	c.(2548-2550)tcG>tcA	p.S850S	ZNHIT3_ENST00000588253.1_3'UTR|MYO19_ENST00000268852.9_Silent_p.S650S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	850	Mitochondrial targeting.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCTGCAGCGGCGAGGTGCTCA	0.537																																						ENST00000431794.3																			0				endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20						c.(2548-2550)tcG>tcA		myosin XIX							72.0	70.0	71.0					17																	34854317		1935	4142	6077	SO:0001819	synonymous_variant	80179					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr17:34854317C>T	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2550G>A	17.37:g.34854317C>T						ZNHIT3_ENST00000588253.1_3'UTR|MYO19_ENST00000268852.9_Silent_p.S650S	p.S850S	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)	25	3072	-		Breast(25;0.00957)|Ovarian(249;0.17)	850			Mitochondrial targeting.		Q59GS4|Q9H5X2	Silent	SNP	ENST00000431794.3	37	c.2550G>A	CCDS54112.1																																																																																				0.537	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109		33	32	0	0	0	1	0	33	32				
HSPA8	3312	broad.mit.edu	37	11	122930210	122930210	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:122930210T>C	ENST00000532636.1	-	5	1210	c.1091A>G	c.(1090-1092)aAc>aGc	p.N364S	HSPA8_ENST00000534624.1_Missense_Mutation_p.N364S|SNORD14C_ENST00000365382.1_RNA|HSPA8_ENST00000533540.1_Missense_Mutation_p.N218S|HSPA8_ENST00000453788.2_Missense_Mutation_p.N364S|HSPA8_ENST00000526110.1_Missense_Mutation_p.N345S|HSPA8_ENST00000534319.1_Missense_Mutation_p.N128S|SNORD14E_ENST00000364009.1_RNA|SNORD14D_ENST00000384390.1_RNA|HSPA8_ENST00000526862.1_5'UTR|HSPA8_ENST00000227378.3_Missense_Mutation_p.N364S			P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	364	Interaction with BAG1.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|chaperone mediated protein folding requiring cofactor (GO:0051085)|clathrin coat disassembly (GO:0072318)|gene expression (GO:0010467)|membrane organization (GO:0061024)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|negative regulation of fibril organization (GO:1902904)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotransmitter secretion (GO:0007269)|post-Golgi vesicle-mediated transport (GO:0006892)|protein folding (GO:0006457)|protein refolding (GO:0042026)|regulation of cell cycle (GO:0051726)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	blood microparticle (GO:0072562)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|Prp19 complex (GO:0000974)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|MHC class II protein complex binding (GO:0023026)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCATCAGGGTTGATGCTCTT	0.438																																					Colon(21;486 594 5900 6733 14272)	ENST00000534624.1																			0				breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36						c.(1090-1092)aAc>aGc		heat shock 70kDa protein 8							123.0	116.0	118.0					11																	122930210		2202	4299	6501	SO:0001583	missense	3312				cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding	g.chr11:122930210T>C	Y00371	CCDS8440.1, CCDS44754.1	11q24.1	2011-09-02	2002-08-29		ENSG00000109971	ENSG00000109971		"""Heat shock proteins / HSP70"""	5241	protein-coding gene	gene with protein product		600816	"""heat shock 70kD protein 8"""	HSPA10		8530083, 3037489	Standard	NM_006597		Approved	HSC71, HSC70, HSP73	uc001pyo.3	P11142	OTTHUMG00000166030	ENST00000532636.1:c.1091A>G	11.37:g.122930210T>C	ENSP00000437125:p.Asn364Ser					HSPA8_ENST00000227378.3_Missense_Mutation_p.N364S|HSPA8_ENST00000526110.1_Missense_Mutation_p.N345S|HSPA8_ENST00000534319.1_Missense_Mutation_p.N128S|HSPA8_ENST00000533540.1_Missense_Mutation_p.N218S|HSPA8_ENST00000532636.1_Missense_Mutation_p.N364S|HSPA8_ENST00000453788.2_Missense_Mutation_p.N364S|HSPA8_ENST00000526862.1_5'UTR	p.N364S	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)	5	1367	-		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	364			Interaction with BAG1.		Q9H3R6	Missense_Mutation	SNP	ENST00000532636.1	37	c.1091A>G	CCDS8440.1	.	.	.	.	.	.	.	.	.	.	T	24.6	4.548640	0.86127	.	.	ENSG00000109971	ENST00000532636;ENST00000533540;ENST00000534624;ENST00000453788;ENST00000227378;ENST00000534319;ENST00000526110;ENST00000528292	T;T;T;T;T;T;T;T	0.01397	4.94;4.94;4.94;4.94;4.94;4.94;4.94;4.94	4.81	4.81	0.61882	.	0.000000	0.85682	D	0.000000	T	0.15912	0.0383	H	0.99273	4.495	0.80722	D	1	D;D;P;D	0.57257	0.979;0.961;0.952;0.979	P;P;P;P	0.60236	0.735;0.871;0.796;0.735	T	0.35001	-0.9806	10	0.87932	D	0	-29.5464	14.6962	0.69124	0.0:0.0:0.0:1.0	.	364;364;364;364	Q53GZ6;E7ET08;P11142-2;P11142	.;.;.;HSP7C_HUMAN	S	364;218;364;364;364;128;345;304	ENSP00000437125:N364S;ENSP00000437189:N218S;ENSP00000432083:N364S;ENSP00000404372:N364S;ENSP00000227378:N364S;ENSP00000433316:N128S;ENSP00000433584:N345S;ENSP00000432884:N304S	ENSP00000227378:N364S	N	-	2	0	HSPA8	122435420	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.811000	0.86092	1.932000	0.55993	0.454000	0.30748	AAC		0.438	HSPA8-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000387515.1			13	112	0	0	0	1	0	13	112				
ABCA13	154664	broad.mit.edu	37	7	48280530	48280530	+	Nonsense_Mutation	SNP	G	G	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:48280530G>T	ENST00000435803.1	+	10	1153	c.1129G>T	c.(1129-1131)Gag>Tag	p.E377*		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	377					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCATAGTCTGGAGGCTCTCAG	0.493																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(1129-1131)Gag>Tag		ATP-binding cassette, sub-family A (ABC1), member 13							100.0	100.0	100.0					7																	48280530		1998	4175	6173	SO:0001587	stop_gained	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48280530G>T	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.1129G>T	7.37:g.48280530G>T	ENSP00000411096:p.Glu377*						p.E377*	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			10	1153	+			377					K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Nonsense_Mutation	SNP	ENST00000435803.1	37	c.1129G>T	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.399949	0.83120	.	.	ENSG00000179869	ENST00000435803	.	.	.	5.6	2.69	0.31865	.	0.608356	0.14527	N	0.314061	.	.	.	.	.	.	0.09310	N	0.999997	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	7.5519	0.27802	0.087:0.3193:0.5937:0.0	.	.	.	.	X	377	.	ENSP00000411096:E377X	E	+	1	0	ABCA13	48251076	0.000000	0.05858	0.024000	0.17045	0.013000	0.08279	0.047000	0.14056	0.262000	0.21774	0.655000	0.94253	GAG		0.493	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		23	38	1	0	2.98393e-07	1	3.19456e-07	23	38				
TMEM140	55281	broad.mit.edu	37	7	134849221	134849221	+	Missense_Mutation	SNP	G	G	A	rs151072952		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:134849221G>A	ENST00000275767.3	+	2	251	c.28G>A	c.(28-30)Gac>Aac	p.D10N	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140	10						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(2)	5						TCGGTGGCGCGACCAGCTGCT	0.597																																						ENST00000275767.2																			0				kidney(1)|large_intestine(2)|lung(2)	5						c.(28-30)Gac>Aac		transmembrane protein 140		G	ASN/ASP	0,4406		0,0,2203	131.0	114.0	120.0		28	-11.4	0.0	7	dbSNP_134	120	1,8599		0,1,4299	no	missense	TMEM140	NM_018295.3	23	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	10/186	134849221	1,13005	2203	4300	6503	SO:0001583	missense	55281					integral to membrane		g.chr7:134849221G>A	AK001862	CCDS5837.1	7q33	2006-03-17			ENSG00000146859	ENSG00000146859			21870	protein-coding gene	gene with protein product							Standard	NM_018295		Approved	FLJ11000	uc003vsi.3	Q9NV12	OTTHUMG00000155413	ENST00000275767.3:c.28G>A	7.37:g.134849221G>A	ENSP00000275767:p.Asp10Asn					C7orf49_ENST00000459937.1_Intron	p.D10N	NM_018295.4	NP_060765.4	Q9NV12	TM140_HUMAN			2	251	+			10					A4D1P9|Q8WUC3	Missense_Mutation	SNP	ENST00000275767.3	37	c.28G>A	CCDS5837.1	.	.	.	.	.	.	.	.	.	.	G	7.258	0.604574	0.14002	0.0	1.16E-4	ENSG00000146859	ENST00000275767;ENST00000456488	T	0.17854	2.25	5.68	-11.4	0.00090	.	2.045250	0.01713	N	0.027843	T	0.04815	0.0130	N	0.02539	-0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.33059	-0.9883	10	0.06099	T	0.92	0.5804	10.4633	0.44592	0.2477:0.2691:0.4833:0.0	.	10	Q9NV12	TM140_HUMAN	N	10	ENSP00000275767:D10N	ENSP00000275767:D10N	D	+	1	0	TMEM140	134499761	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-4.168000	0.00281	-1.650000	0.01506	-1.259000	0.01468	GAC		0.597	TMEM140-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340017.2	NM_018295		22	61	0	0	0	1	0	22	61				
SZT2	23334	broad.mit.edu	37	1	43888957	43888957	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:43888957T>C	ENST00000562955.1	+	15	2225	c.2225T>C	c.(2224-2226)cTg>cCg	p.L742P	SZT2_ENST00000372442.1_5'UTR	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	742					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						CTTGTGGTCCTGCATAAGCCA	0.627																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(2224-2226)cTg>cCg		seizure threshold 2 homolog (mouse)							44.0	41.0	42.0					1																	43888957		876	1991	2867	SO:0001583	missense	23334					peroxisome		g.chr1:43888957T>C	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.2225T>C	1.37:g.43888957T>C	ENSP00000457168:p.Leu742Pro					SZT2_ENST00000372442.1_5'UTR	p.L742P	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			15	2225	+			742					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.2225T>C	CCDS30694.2																																																																																				0.627	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		3	31	0	0	0	1	0	3	31				
PRKAR1B	5575	broad.mit.edu	37	7	720338	720338	+	Missense_Mutation	SNP	C	C	T	rs140110814		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:720338C>T	ENST00000406797.1	-	3	377	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R68Q|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R68Q|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R68Q|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R68Q	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	68	Dimerization and phosphorylation.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		TGACTTTTGCCGCGCCAAAAT	0.607																																						ENST00000406797.1																			0				endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17						c.(202-204)cGg>cAg		protein kinase, cAMP-dependent, regulatory, type I, beta		C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	82.0	78.0	80.0		203,203,203,203,203,203	0.4	0.1	7	dbSNP_134	80	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense,missense	PRKAR1B	NM_001164758.1,NM_001164759.1,NM_001164760.1,NM_001164761.1,NM_001164762.1,NM_002735.2	43,43,43,43,43,43	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign,benign,benign,benign,benign	68/382,68/382,68/382,68/382,68/382,68/382	720338	2,13004	2203	4300	6503	SO:0001583	missense	5575				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity	g.chr7:720338C>T	M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.203G>A	7.37:g.720338C>T	ENSP00000385749:p.Arg68Gln					PRKAR1B_ENST00000537384.1_Missense_Mutation_p.R68Q|PRKAR1B_ENST00000544935.1_Missense_Mutation_p.R68Q|PRKAR1B_ENST00000403562.1_Missense_Mutation_p.R68Q|PRKAR1B_ENST00000360274.4_Missense_Mutation_p.R68Q	p.R68Q	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)	3	377	-		Ovarian(82;0.0779)	68			Dimerization and phosphorylation.		Q8N422	Missense_Mutation	SNP	ENST00000406797.1	37	c.203G>A	CCDS34579.1	.	.	.	.	.	.	.	.	.	.	C	0.751	-0.772760	0.02951	2.27E-4	1.16E-4	ENSG00000188191	ENST00000537384;ENST00000544935;ENST00000406797;ENST00000403562;ENST00000360274;ENST00000430040;ENST00000414568;ENST00000417852	D;D;D;D;D;D;D;D	0.92199	-1.99;-1.99;-1.99;-1.99;-1.99;-2.99;-1.85;-2.97	5.06	0.422	0.16457	.	0.273076	0.29956	N	0.010761	T	0.67581	0.2908	N	0.00707	-1.245	0.45150	D	0.998169	B	0.02656	0.0	B	0.04013	0.001	T	0.53940	-0.8367	10	0.08837	T	0.75	-10.6034	4.1771	0.10356	0.1454:0.4803:0.0:0.3743	.	68	P31321	KAP1_HUMAN	Q	68;68;68;68;68;68;13;68	ENSP00000440449:R68Q;ENSP00000444487:R68Q;ENSP00000385749:R68Q;ENSP00000385349:R68Q;ENSP00000353415:R68Q;ENSP00000402648:R68Q;ENSP00000394633:R13Q;ENSP00000406670:R68Q	ENSP00000353415:R68Q	R	-	2	0	PRKAR1B	686864	0.909000	0.30893	0.083000	0.20561	0.067000	0.16453	0.696000	0.25541	-0.233000	0.09797	-0.367000	0.07326	CGG		0.607	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322525.1			3	50	0	0	0	1	0	3	50				
BICD1	636	broad.mit.edu	37	12	32481322	32481322	+	Silent	SNP	C	C	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr12:32481322C>A	ENST00000281474.5	+	5	2036	c.1933C>A	c.(1933-1935)Cgg>Agg	p.R645R	BICD1_ENST00000548411.1_Silent_p.R645R	NM_001714.2	NP_001705.2	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	645					anatomical structure morphogenesis (GO:0009653)|intracellular mRNA localization (GO:0008298)|microtubule anchoring at microtubule organizing center (GO:0072393)|minus-end-directed organelle transport along microtubule (GO:0072385)|negative regulation of phospholipase C activity (GO:1900275)|negative regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900737)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein localization to organelle (GO:0033365)|regulation of proteinase activated receptor activity (GO:1900276)|RNA processing (GO:0006396)|stress granule assembly (GO:0034063)|viral process (GO:0016032)	cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|host cell viral assembly compartment (GO:0072517)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	cytoskeletal adaptor activity (GO:0008093)|dynactin binding (GO:0034452)|dynein binding (GO:0045502)|proteinase activated receptor binding (GO:0031871)|Rab GTPase binding (GO:0017137)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCTGTGGACCGGTCCTTGCA	0.468																																						ENST00000548411.1																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						c.(1933-1935)Cgg>Agg		bicaudal D homolog 1 (Drosophila)							110.0	113.0	112.0					12																	32481322		2203	4300	6503	SO:0001819	synonymous_variant	636				anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton	g.chr12:32481322C>A	U90028	CCDS8726.1, CCDS44859.1	12p11.2-p11.1	2005-01-13	2001-11-28			ENSG00000151746			1049	protein-coding gene	gene with protein product		602204	"""Bicaudal D (Drosophila) homolog 1"""			9367685	Standard	NM_001714		Approved		uc001rku.3	Q96G01	OTTHUMG00000169307	ENST00000281474.5:c.1933C>A	12.37:g.32481322C>A						BICD1_ENST00000281474.5_Silent_p.R645R	p.R645R	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	OV - Ovarian serous cystadenocarcinoma(6;0.0201)		5	2114	+	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		645					A8K2C3|F8W113|O43892|O43893	Silent	SNP	ENST00000281474.5	37	c.1933C>A	CCDS8726.1																																																																																				0.468	BICD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403380.1	NM_001714		40	50	1	0	1.07121e-22	1	1.2185e-22	40	50				
OR10G8	219869	broad.mit.edu	37	11	123900428	123900428	+	Silent	SNP	C	C	T	rs565874834		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:123900428C>T	ENST00000431524.1	+	1	132	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	33						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGTGGTTTACGTGCTCACTG	0.572																																						ENST00000431524.1																			0				breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						c.(97-99)taC>taT		olfactory receptor, family 10, subfamily G, member 8							203.0	179.0	187.0					11																	123900428		2201	4299	6500	SO:0001819	synonymous_variant	219869				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123900428C>T	AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.99C>T	11.37:g.123900428C>T							p.Y33Y	NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)	1	132	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	33					B2RNJ3|Q6IEV2	Silent	SNP	ENST00000431524.1	37	c.99C>T	CCDS31704.1																																																																																				0.572	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387270.1	NM_001004464		5	188	0	0	0	1	0	5	188				
CYP2C19	1557	broad.mit.edu	37	10	96540343	96540343	+	Missense_Mutation	SNP	A	A	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:96540343A>C	ENST00000371321.3	+	4	651	c.569A>C	c.(568-570)aAa>aCa	p.K190T	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	190					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|exogenous drug catabolic process (GO:0042738)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	(R)-limonene 6-monooxygenase activity (GO:0052741)|(S)-limonene 6-monooxygenase activity (GO:0018675)|(S)-limonene 7-monooxygenase activity (GO:0018676)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxygen binding (GO:0019825)|steroid hydroxylase activity (GO:0008395)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Acenocoumarol(DB01418)|Acetylsalicylic acid(DB00945)|Adinazolam(DB00546)|Almotriptan(DB00918)|Aminoglutethimide(DB00357)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Amprenavir(DB00701)|Antipyrine(DB01435)|Apixaban(DB06605)|Aprepitant(DB00673)|Arformoterol(DB01274)|Artemether(DB06697)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Benzatropine(DB00245)|Bicalutamide(DB01128)|Bifonazole(DB04794)|Bortezomib(DB00188)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Carisoprodol(DB00395)|Chloramphenicol(DB00446)|Chlorpropamide(DB00672)|Cholecalciferol(DB00169)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cisapride(DB00604)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clevidipine(DB04920)|Clobazam(DB00349)|Clomipramine(DB01242)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronabinol(DB00470)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enfuvirtide(DB00109)|Enzalutamide(DB08899)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estradiol(DB00783)|Ethanol(DB00898)|Ethotoin(DB00754)|Etoricoxib(DB01628)|Etravirine(DB06414)|Famotidine(DB00927)|Felbamate(DB00949)|Fluconazole(DB00196)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Flutamide(DB00499)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Gliclazide(DB01120)|Glucosamine(DB01296)|Glyburide(DB01016)|Guanfacine(DB01018)|Haloperidol(DB00502)|Hexobarbital(DB01355)|Ibuprofen(DB01050)|Ifosfamide(DB01181)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Indomethacin(DB00328)|Isoniazid(DB00951)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Levomilnacipran(DB08918)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Losartan(DB00678)|Lovastatin(DB00227)|LULICONAZOLE(DB08933)|Lumiracoxib(DB01283)|MACITENTAN(DB08932)|Melatonin(DB01065)|Memantine(DB01043)|Meprobamate(DB00371)|Methadone(DB00333)|Methazolamide(DB00703)|Methimazole(DB00763)|Methsuximide(DB05246)|Methylphenobarbital(DB00849)|Metoprolol(DB00264)|Miconazole(DB01110)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nicotine(DB00184)|Nilutamide(DB00665)|Nilvadipine(DB06712)|Norethindrone(DB00717)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ospemifene(DB04938)|Oxcarbazepine(DB00776)|Oxiconazole(DB00239)|Pantoprazole(DB00213)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Pentobarbital(DB00312)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phensuximide(DB00832)|Phenytoin(DB00252)|Pimozide(DB01100)|Pioglitazone(DB01132)|Pipotiazine(DB01621)|Podofilox(DB01179)|Prasugrel(DB06209)|Praziquantel(DB01058)|Prednisone(DB00635)|Primidone(DB00794)|Probenecid(DB01032)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Propofol(DB00818)|Propranolol(DB00571)|Quazepam(DB01589)|Quetiapine(DB01224)|Quinine(DB00468)|Rabeprazole(DB01129)|Ramelteon(DB00980)|Ranitidine(DB00863)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sitaxentan(DB06268)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Tapentadol(DB06204)|Telmisartan(DB00966)|Temazepam(DB00231)|Teniposide(DB00444)|Terbinafine(DB00857)|Testosterone(DB00624)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Timolol(DB00373)|Tioconazole(DB01007)|Tipranavir(DB00932)|Tofacitinib(DB08895)|Tolbutamide(DB01124)|Tolterodine(DB01036)|Topiramate(DB00273)|Torasemide(DB00214)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vismodegib(DB08828)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zidovudine(DB00495)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTCGATTATAAAGATCAGCAA	0.418																																						ENST00000371321.3																			0				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43						c.(568-570)aAa>aCa		cytochrome P450, family 2, subfamily C, polypeptide 19	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)						139.0	136.0	137.0					10																	96540343		2203	4300	6503	SO:0001583	missense	1557				exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	g.chr10:96540343A>C	M61854	CCDS7436.1	10q24	2007-12-14	2003-01-14		ENSG00000165841	ENSG00000165841		"""Cytochrome P450s"""	2621	protein-coding gene	gene with protein product		124020	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 19"""	CYP2C		2009263, 8530044	Standard	NM_000769		Approved	P450IIC19, CPCJ	uc010qnz.2	P33261	OTTHUMG00000018799	ENST00000371321.3:c.569A>C	10.37:g.96540343A>C	ENSP00000360372:p.Lys190Thr					CYP2C19_ENST00000464755.1_3'UTR	p.K190T	NM_000769.1	NP_000760.1	P33261	CP2CJ_HUMAN		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	4	651	+		Colorectal(252;0.09)	190					P33259|Q8WZB1|Q8WZB2|Q9UCD4	Missense_Mutation	SNP	ENST00000371321.3	37	c.569A>C	CCDS7436.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.298210	0.23650	.	.	ENSG00000165841	ENST00000371321	T	0.69306	-0.39	4.13	-7.91	0.01165	.	0.684486	0.13282	U	0.399676	T	0.44871	0.1314	L	0.28344	0.845	0.09310	N	1	B	0.11235	0.004	B	0.15484	0.013	T	0.18053	-1.0349	10	0.30078	T	0.28	.	11.3878	0.49796	0.2088:0.705:0.0863:0.0	.	190	P33261	CP2CJ_HUMAN	T	190	ENSP00000360372:K190T	ENSP00000360372:K190T	K	+	2	0	CYP2C19	96530333	0.000000	0.05858	0.001000	0.08648	0.162000	0.22319	0.793000	0.26944	-1.392000	0.02082	0.411000	0.27672	AAA		0.418	CYP2C19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049490.1	NM_000769		101	88	0	0	0	1	0	101	88				
BRIP1	83990	broad.mit.edu	37	17	59760933	59760933	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:59760933C>A	ENST00000259008.2	-	20	3741	c.3474G>T	c.(3472-3474)ttG>ttT	p.L1158F		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1158					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						AATTGTTAGCCAATCTATTTC	0.333			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(3472-3474)ttG>ttT	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							75.0	74.0	75.0					17																	59760933		2203	4299	6502	SO:0001583	missense	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59760933C>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3474G>T	17.37:g.59760933C>A	ENSP00000259008:p.Leu1158Phe						p.L1158F	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			20	3741	-			1158					Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.3474G>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	C	2.407	-0.336166	0.05278	.	.	ENSG00000136492	ENST00000259008	T	0.75589	-0.95	5.39	-0.498	0.12019	.	2.966490	0.00678	N	0.000669	T	0.57946	0.2088	N	0.24115	0.695	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.31475	-0.9942	9	.	.	.	-0.2137	2.3486	0.04278	0.1195:0.485:0.1575:0.238	.	1158	Q9BX63	FANCJ_HUMAN	F	1158	ENSP00000259008:L1158F	.	L	-	3	2	BRIP1	57115715	0.001000	0.12720	0.006000	0.13384	0.063000	0.16089	0.410000	0.21098	0.028000	0.15324	-0.251000	0.11542	TTG		0.333	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		17	47	1	0	1.02788e-11	1	1.1407e-11	17	47				
JAK3	3718	broad.mit.edu	37	19	17950368	17950368	+	Silent	SNP	G	G	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr19:17950368G>T	ENST00000527670.1	-	9	1388	c.1359C>A	c.(1357-1359)ctC>ctA	p.L453L	JAK3_ENST00000458235.1_Silent_p.L453L|JAK3_ENST00000534444.1_Silent_p.L453L|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	453	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	AGGTTGCCAGGAGCTCTCGAA	0.627		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1357-1359)ctC>ctA		Janus kinase 3							36.0	30.0	32.0					19																	17950368		2203	4300	6503	SO:0001819	synonymous_variant	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17950368G>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1359C>A	19.37:g.17950368G>T						JAK3_ENST00000534444.1_Silent_p.L453L|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Silent_p.L453L	p.L453L	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			10	1458	-			453			SH2; atypical.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Silent	SNP	ENST00000527670.1	37	c.1359C>A	CCDS12366.1																																																																																				0.627	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		5	6	1	0	3.59834e-05	1	3.76378e-05	5	6				
SMEK2	57223	broad.mit.edu	37	2	55825874	55825874	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:55825874C>G	ENST00000345102.5	-	4	900	c.599G>C	c.(598-600)gGa>gCa	p.G200A	SMEK2_ENST00000407823.3_Missense_Mutation_p.G200A|SMEK2_ENST00000272313.5_Missense_Mutation_p.G200A	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	200					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAATAAGATTCCTCTAATAAT	0.373																																						ENST00000272313.5																			0				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16						c.(598-600)gGa>gCa		SMEK homolog 2, suppressor of mek1 (Dictyostelium)							67.0	71.0	69.0					2																	55825874		2203	4300	6503	SO:0001583	missense	57223					microtubule organizing center|nucleus	protein binding	g.chr2:55825874C>G	AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.599G>C	2.37:g.55825874C>G	ENSP00000339769:p.Gly200Ala					SMEK2_ENST00000407823.3_Missense_Mutation_p.G200A|SMEK2_ENST00000345102.5_Missense_Mutation_p.G200A	p.G200A	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		4	926	-			200					Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Missense_Mutation	SNP	ENST00000345102.5	37	c.599G>C	CCDS46289.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944737	0.73672	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	T;T;T	0.41758	0.99;0.99;0.99	5.74	5.74	0.90152	Domain of unknown function DUF625 (1);Armadillo-type fold (1);	0.046376	0.85682	D	0.000000	T	0.54759	0.1878	L	0.42529	1.33	0.80722	D	1	P;D;B;P	0.55605	0.537;0.972;0.365;0.771	B;P;B;P	0.60609	0.236;0.877;0.131;0.549	T	0.36237	-0.9756	10	0.22706	T	0.39	-14.3084	19.9219	0.97089	0.0:1.0:0.0:0.0	.	200;200;200;200	Q5MIZ7-2;Q5MIZ7;Q5MIZ7-3;B4DKA9	.;P4R3B_HUMAN;.;.	A	200	ENSP00000272313:G200A;ENSP00000385912:G200A;ENSP00000339769:G200A	ENSP00000272313:G200A	G	-	2	0	SMEK2	55679378	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.814000	0.86154	2.697000	0.92050	0.655000	0.94253	GGA		0.373	SMEK2-002	NOVEL	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251483.1	NM_020463		23	53	0	0	0	1	0	23	53				
GPR139	124274	broad.mit.edu	37	16	20043950	20043950	+	Missense_Mutation	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:20043950T>C	ENST00000570682.1	-	2	469	c.169A>G	c.(169-171)Aga>Gga	p.R57G		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	57					G-protein coupled receptor signaling pathway (GO:0007186)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TTCTGTCTTCTTGCCACCAGC	0.458																																						ENST00000570682.1																			0				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						c.(169-171)Aga>Gga		G protein-coupled receptor 139							61.0	62.0	61.0					16																	20043950		2203	4300	6503	SO:0001583	missense	124274					integral to membrane|plasma membrane		g.chr16:20043950T>C	AY255545	CCDS32398.1	16p13.11	2012-08-21						"""GPCR / Class A : Orphans"""	19995	protein-coding gene	gene with protein product						12679517	Standard	XM_005255114		Approved	PGR3	uc002dgu.1	Q6DWJ6		ENST00000570682.1:c.169A>G	16.37:g.20043950T>C	ENSP00000458791:p.Arg57Gly						p.R57G	NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN			2	469	-			57					A8K5R9|Q86SP2|Q8TDU8	Missense_Mutation	SNP	ENST00000570682.1	37	c.169A>G	CCDS32398.1	.	.	.	.	.	.	.	.	.	.	T	16.29	3.080338	0.55753	.	.	ENSG00000180269	ENST00000326571	.	.	.	5.3	-2.89	0.05665	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74084	0.3670	M	0.64170	1.965	0.46458	D	0.999051	D	0.89917	1.0	D	0.97110	1.0	T	0.77191	-0.2678	9	0.56958	D	0.05	-21.6187	18.5887	0.91200	0.0:0.0:0.7885:0.2115	.	57	Q6DWJ6	GP139_HUMAN	G	57	.	ENSP00000370779:R57G	R	-	1	2	GPR139	19951451	1.000000	0.71417	0.188000	0.23233	0.928000	0.56348	3.278000	0.51662	-0.210000	0.10140	0.460000	0.39030	AGA		0.458	GPR139-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438522.1	NM_001002911		13	21	0	0	0	1	0	13	21				
MYBBP1A	10514	broad.mit.edu	37	17	4457112	4457112	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:4457112A>T	ENST00000254718.4	-	5	860	c.554T>A	c.(553-555)cTc>cAc	p.L185H	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L185H			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	185	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TACCTCGGAGAGGATGTCCAC	0.592																																						ENST00000254718.4																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						c.(553-555)cTc>cAc		MYB binding protein (P160) 1a							46.0	48.0	47.0					17																	4457112		2203	4300	6503	SO:0001583	missense	10514				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding	g.chr17:4457112A>T	AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.554T>A	17.37:g.4457112A>T	ENSP00000254718:p.Leu185His					MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L185H	p.L185H			Q9BQG0	MBB1A_HUMAN			5	860	-			185			Interaction with MYB (By similarity).		Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	c.554T>A	CCDS11046.1	.	.	.	.	.	.	.	.	.	.	A	18.70	3.679928	0.68042	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.66099	-0.19;-0.19	5.78	5.78	0.91487	Armadillo-type fold (1);	0.066937	0.64402	D	0.000006	T	0.76681	0.4021	M	0.64997	1.995	0.53005	D	0.999969	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.991	T	0.78502	-0.2179	10	0.66056	D	0.02	-23.9368	15.2208	0.73310	1.0:0.0:0.0:0.0	.	185;185	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	H	185	ENSP00000370968:L185H;ENSP00000254718:L185H	ENSP00000254718:L185H	L	-	2	0	MYBBP1A	4403861	1.000000	0.71417	0.936000	0.37596	0.066000	0.16364	6.314000	0.72848	2.333000	0.79357	0.533000	0.62120	CTC		0.592	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		28	8	0	0	0	1	0	28	8				
PKD1L1	168507	broad.mit.edu	37	7	47920335	47920335	+	Missense_Mutation	SNP	C	C	A	rs539595370		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:47920335C>A	ENST00000289672.2	-	21	3561	c.3511G>T	c.(3511-3513)Gtg>Ttg	p.V1171L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1171	REJ. {ECO:0000255|PROSITE- ProRule:PRU00511}.				detection of mechanical stimulus (GO:0050982)|detection of nodal flow (GO:0003127)|left/right axis specification (GO:0070986)|single organismal cell-cell adhesion (GO:0016337)	calcium channel complex (GO:0034704)|cilium (GO:0005929)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)		BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CCCACAGACACTTGCAGGACG	0.473																																						ENST00000289672.2																		BBS9/PKD1L1(2)	0				NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						c.(3511-3513)Gtg>Ttg		polycystic kidney disease 1 like 1							208.0	160.0	177.0					7																	47920335		2203	4300	6503	SO:0001583	missense	168507				cell-cell adhesion	integral to membrane		g.chr7:47920335C>A	AB061683	CCDS34633.1	7p12.3	2008-07-18			ENSG00000158683	ENSG00000158683			18053	protein-coding gene	gene with protein product	"""polycystin-1L1"""	609721				11863367	Standard	NM_138295		Approved	PRO19563	uc003tny.2	Q8TDX9	OTTHUMG00000155649	ENST00000289672.2:c.3511G>T	7.37:g.47920335C>A	ENSP00000289672:p.Val1171Leu						p.V1171L	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN			21	3561	-			1171			REJ.		Q6UWK1	Missense_Mutation	SNP	ENST00000289672.2	37	c.3511G>T	CCDS34633.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.608944	0.28623	.	.	ENSG00000158683	ENST00000289672	T	0.62639	0.01	4.43	4.43	0.53597	Egg jelly receptor, REJ-like (1);PKD/REJ-like protein (1);	0.457958	0.17983	N	0.155463	T	0.42630	0.1211	N	0.14661	0.345	0.09310	N	1	B	0.16603	0.018	B	0.15870	0.014	T	0.12400	-1.0549	10	0.14252	T	0.57	-16.902	12.9662	0.58485	0.0:1.0:0.0:0.0	.	1171	Q8TDX9	PK1L1_HUMAN	L	1171	ENSP00000289672:V1171L	ENSP00000289672:V1171L	V	-	1	0	PKD1L1	47886860	0.989000	0.36119	0.037000	0.18230	0.707000	0.40811	3.302000	0.51849	2.207000	0.71202	0.650000	0.86243	GTG		0.473	PKD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340974.1	NM_138295		6	55	1	0	6.31663e-08	1	6.84301e-08	6	55				
STAU2	27067	broad.mit.edu	37	8	74529544	74529544	+	Missense_Mutation	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr8:74529544G>A	ENST00000524300.1	-	7	903	c.553C>T	c.(553-555)Cca>Tca	p.P185S	STAU2_ENST00000355780.5_Missense_Mutation_p.P153S|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000519961.1_Missense_Mutation_p.P185S|STAU2_ENST00000521727.1_Missense_Mutation_p.P165S|STAU2_ENST00000517542.1_Missense_Mutation_p.P147S|STAU2_ENST00000523558.1_Missense_Mutation_p.P13S|STAU2_ENST00000521210.1_Missense_Mutation_p.P81S|STAU2_ENST00000522695.1_Missense_Mutation_p.P153S|STAU2_ENST00000522509.1_Missense_Mutation_p.P153S	NM_001164380.1|NM_001164381.1	NP_001157852.1|NP_001157853.1	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	185					transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|microtubule (GO:0005874)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GATCTTTCTGGAATAGGTTCA	0.398																																						ENST00000355780.5																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19						c.(457-459)Cca>Tca		staufen double-stranded RNA binding protein 2							147.0	133.0	138.0					8																	74529544		2203	4300	6503	SO:0001583	missense	27067				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding	g.chr8:74529544G>A	Y19062	CCDS6214.1, CCDS55244.1, CCDS55245.1, CCDS55246.1, CCDS55247.1, CCDS55248.1	8q21.11	2013-06-05	2013-06-05		ENSG00000040341	ENSG00000040341			11371	protein-coding gene	gene with protein product		605920	"""staufen (Drosophila, RNA-binding protein) homolog 2"", ""staufen, RNA binding protein, homolog 2 (Drosophila)"""			10585778	Standard	NM_014393		Approved	39K2	uc003xzm.3	Q9NUL3	OTTHUMG00000164499	ENST00000524300.1:c.553C>T	8.37:g.74529544G>A	ENSP00000428756:p.Pro185Ser					STAU2_ENST00000519961.1_Missense_Mutation_p.P185S|STAU2_ENST00000523558.1_Missense_Mutation_p.P13S|STAU2_ENST00000517542.1_Missense_Mutation_p.P147S|STAU2_ENST00000522509.1_Missense_Mutation_p.P153S|STAU2_ENST00000524300.1_Missense_Mutation_p.P185S|STAU2_ENST00000522695.1_Missense_Mutation_p.P153S|STAU2_ENST00000521210.1_Missense_Mutation_p.P81S|STAU2_ENST00000521727.1_Missense_Mutation_p.P165S|STAU2_ENST00000521451.1_5'UTR	p.P153S	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)		6	675	-	Breast(64;0.0138)		185			DRBM 2.		B7Z1I6|B7Z292|B7Z8B4|E7ER74|E9PEI3|E9PF26|E9PF50|Q6AHY7|Q96HM0|Q96HM1|Q9NVI5|Q9UGG6	Missense_Mutation	SNP	ENST00000524300.1	37	c.457C>T	CCDS55247.1	.	.	.	.	.	.	.	.	.	.	G	19.26	3.793405	0.70452	.	.	ENSG00000040341	ENST00000522695;ENST00000524300;ENST00000523558;ENST00000521210;ENST00000355780;ENST00000519961;ENST00000521727;ENST00000522509;ENST00000517542;ENST00000518767;ENST00000521447	T;T;T;T;T;T;T;T;T;T;T	0.64260	-0.09;-0.09;0.97;0.05;-0.09;-0.09;-0.09;-0.09;-0.09;0.81;-0.09	5.1	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.77890	0.4198	M	0.64170	1.965	0.80722	D	1	D;D;D;D;D;D;B	0.89917	1.0;0.999;1.0;1.0;0.997;1.0;0.402	D;D;D;D;P;D;B	0.87578	0.996;0.974;0.996;0.998;0.829;0.996;0.109	T	0.78685	-0.2108	10	0.54805	T	0.06	-23.6113	18.8698	0.92308	0.0:0.0:1.0:0.0	.	165;81;13;153;185;153;185	E7EPX0;E9PEI3;E7ER74;F8VPI7;E7EVJ4;E9PH62;E9PF26	.;.;.;.;.;.;.	S	153;185;13;81;153;185;165;153;147;13;153	ENSP00000428456:P153S;ENSP00000428756:P185S;ENSP00000428741:P13S;ENSP00000429173:P81S;ENSP00000348026:P153S;ENSP00000430907:P185S;ENSP00000429973:P165S;ENSP00000427977:P153S;ENSP00000431111:P147S;ENSP00000429005:P13S;ENSP00000428829:P153S	ENSP00000344030:P13S	P	-	1	0	STAU2	74692098	1.000000	0.71417	1.000000	0.80357	0.545000	0.35147	9.188000	0.94921	2.520000	0.84964	0.555000	0.69702	CCA		0.398	STAU2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379000.2	NM_001164380		10	30	0	0	0	1	0	10	30				
OR3A1	4994	broad.mit.edu	37	17	3195619	3195619	+	Silent	SNP	A	A	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:3195619A>G	ENST00000323404.1	-	1	257	c.258T>C	c.(256-258)agT>agC	p.S86S	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	86					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						ACAGGAGACGACTCAACATTG	0.562																																					GBM(20;287 516 18743 28660 36594)	ENST00000323404.1																			0				central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						c.(256-258)agT>agC		olfactory receptor, family 3, subfamily A, member 1							99.0	78.0	85.0					17																	3195619		2203	4300	6503	SO:0001819	synonymous_variant	4994				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr17:3195619A>G	X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.258T>C	17.37:g.3195619A>G						RP11-64J4.2_ENST00000573491.1_RNA	p.S86S	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN			1	257	-			86					Q4VB06|Q6IFM4	Silent	SNP	ENST00000323404.1	37	c.258T>C	CCDS11023.1																																																																																				0.562	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207302.2			15	8	0	0	0	1	0	15	8				
JAK3	3718	broad.mit.edu	37	19	17950369	17950369	+	Missense_Mutation	SNP	A	A	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr19:17950369A>T	ENST00000527670.1	-	9	1387	c.1358T>A	c.(1357-1359)cTc>cAc	p.L453H	JAK3_ENST00000458235.1_Missense_Mutation_p.L453H|JAK3_ENST00000534444.1_Missense_Mutation_p.L453H|JAK3_ENST00000526008.1_5'UTR			P52333	JAK3_HUMAN	Janus kinase 3	453	SH2; atypical.				B cell differentiation (GO:0030183)|enzyme linked receptor protein signaling pathway (GO:0007167)|innate immune response (GO:0045087)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|negative regulation of dendritic cell cytokine production (GO:0002731)|negative regulation of FasL biosynthetic process (GO:0045221)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of T cell activation (GO:0050868)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|negative regulation of thymocyte apoptotic process (GO:0070244)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of dendritic cell apoptotic process (GO:2000670)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of T cell apoptotic process (GO:0070232)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to interleukin-9 (GO:0071104)|STAT protein import into nucleus (GO:0007262)|T cell homeostasis (GO:0043029)|tyrosine phosphorylation of STAT protein (GO:0007260)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147					Tofacitinib(DB08895)	GGTTGCCAGGAGCTCTCGAAG	0.627		2	Mis		"""acute megakaryocytic leukemia, ETP ALL"""																																	ENST00000458235.1		2		Dom	yes		19	19p13.1	3718	Mis	Janus kinase 3			L			"""acute megakaryocytic leukemia, ETP ALL"""		0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						c.(1357-1359)cTc>cAc		Janus kinase 3							36.0	30.0	32.0					19																	17950369		2203	4300	6503	SO:0001583	missense	3718				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr19:17950369A>T	U31601	CCDS12366.1	19p13-p12	2014-09-17	2009-04-23		ENSG00000105639	ENSG00000105639	2.7.10.1		6193	protein-coding gene	gene with protein product	"""tyrosine-protein kinase JAK3"", ""leukocyte Janus kinase"""	600173				8921370, 9226382	Standard	NM_000215		Approved	L-JAK, JAKL, LJAK, JAK3_HUMAN, JAK-3	uc002nhn.4	P52333	OTTHUMG00000165648	ENST00000527670.1:c.1358T>A	19.37:g.17950369A>T	ENSP00000432511:p.Leu453His					JAK3_ENST00000534444.1_Missense_Mutation_p.L453H|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000527670.1_Missense_Mutation_p.L453H	p.L453H	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN			10	1457	-			453			SH2; atypical.		Q13259|Q13260|Q13611|Q8N1E8|Q99699|Q9Y6S2	Missense_Mutation	SNP	ENST00000527670.1	37	c.1358T>A	CCDS12366.1	.	.	.	.	.	.	.	.	.	.	A	14.65	2.599705	0.46318	.	.	ENSG00000105639	ENST00000458235;ENST00000428406;ENST00000527670;ENST00000534444	T;T;T	0.60548	0.18;0.18;0.18	3.7	3.7	0.42460	SH2 motif (2);	0.156324	0.43579	D	0.000546	T	0.73401	0.3582	M	0.79805	2.47	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;0.999	D;D;P	0.83275	0.961;0.996;0.907	T	0.75929	-0.3144	10	0.87932	D	0	-12.9187	8.6906	0.34264	1.0:0.0:0.0:0.0	.	453;453;453	B4DK43;P52333-2;P52333	.;.;JAK3_HUMAN	H	453	ENSP00000391676:L453H;ENSP00000432511:L453H;ENSP00000436421:L453H	ENSP00000413248:L453H	L	-	2	0	JAK3	17811369	1.000000	0.71417	0.995000	0.50966	0.119000	0.20118	5.365000	0.66116	1.558000	0.49541	0.374000	0.22700	CTC		0.627	JAK3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385549.1	NM_000215		5	6	0	0	0	1	0	5	6				
AHNAK	79026	broad.mit.edu	37	11	62293657	62293657	+	Missense_Mutation	SNP	C	C	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:62293657C>A	ENST00000378024.4	-	5	8506	c.8232G>T	c.(8230-8232)aaG>aaT	p.K2744N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2744					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTTTGGGCCCTTGATGTCAA	0.478																																						ENST00000378024.4																			0				NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268						c.(8230-8232)aaG>aaT		AHNAK nucleoprotein							180.0	178.0	179.0					11																	62293657		2202	4299	6501	SO:0001583	missense	79026				nervous system development	nucleus	protein binding	g.chr11:62293657C>A	M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.8232G>T	11.37:g.62293657C>A	ENSP00000367263:p.Lys2744Asn					AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	p.K2744N	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN			5	8506	-		Melanoma(852;0.155)	2744					A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	c.8232G>T	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	-	11.73	1.726400	0.30593	.	.	ENSG00000124942	ENST00000378024	T	0.05319	3.46	4.31	-0.189	0.13260	.	.	.	.	.	T	0.13670	0.0331	M	0.93594	3.435	0.24869	N	0.992293	B	0.31459	0.324	B	0.34722	0.188	T	0.16571	-1.0398	9	0.33940	T	0.23	.	5.234	0.15437	0.1335:0.3749:0.0:0.4916	.	2744	Q09666	AHNK_HUMAN	N	2744	ENSP00000367263:K2744N	ENSP00000367263:K2744N	K	-	3	2	AHNAK	62050233	0.935000	0.31712	0.055000	0.19348	0.529000	0.34654	0.525000	0.22956	-0.381000	0.07882	0.298000	0.19748	AAG		0.478	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1	NM_024060		4	272	1	0	0.00024832	1	0.000256785	4	272				
ZNF76	7629	broad.mit.edu	37	6	35259145	35259145	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr6:35259145C>T	ENST00000373953.3	+	8	982	c.716C>T	c.(715-717)tCa>tTa	p.S239L	ZNF76_ENST00000339411.5_Missense_Mutation_p.S239L|ZNF76_ENST00000440666.2_Missense_Mutation_p.S213L	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	239					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						TTCAAGACCTCAGGAGACCTG	0.552																																					Esophageal Squamous(52;92 1039 20612 23956 34676)	ENST00000373953.3																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						c.(715-717)tCa>tTa		zinc finger protein 76							90.0	71.0	77.0					6																	35259145		2203	4300	6503	SO:0001583	missense	7629				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:35259145C>T	M91592	CCDS4801.1, CCDS75435.1	6p21.31	2013-01-08	2011-02-25		ENSG00000065029	ENSG00000065029		"""Zinc fingers, C2H2-type"""	13149	protein-coding gene	gene with protein product		194549	"""zinc finger protein 76 (expressed in testis)"""	D6S229E		1427894	Standard	XM_005249364		Approved	Zfp523, ZNF523	uc003oki.1	P36508	OTTHUMG00000014564	ENST00000373953.3:c.716C>T	6.37:g.35259145C>T	ENSP00000363064:p.Ser239Leu					ZNF76_ENST00000440666.2_Missense_Mutation_p.S213L|ZNF76_ENST00000339411.5_Missense_Mutation_p.S239L	p.S239L	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN			8	982	+			239					Q9BQB2	Missense_Mutation	SNP	ENST00000373953.3	37	c.716C>T	CCDS4801.1	.	.	.	.	.	.	.	.	.	.	C	35	5.504092	0.96371	.	.	ENSG00000065029	ENST00000469195;ENST00000448999;ENST00000373953;ENST00000417184;ENST00000440666;ENST00000339411	T;T;T;T	0.20738	3.02;2.05;2.05;2.44	5.35	5.35	0.76521	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.36932	N	0.002325	T	0.34542	0.0901	L	0.46567	1.45	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.991;0.996;0.998	T	0.02789	-1.1110	10	0.87932	D	0	.	18.5892	0.91202	0.0:1.0:0.0:0.0	.	239;239;239	B7Z851;P36508-2;P36508	.;.;ZNF76_HUMAN	L	239;239;239;239;213;239	ENSP00000419106:S239L;ENSP00000363064:S239L;ENSP00000392243:S213L;ENSP00000344097:S239L	ENSP00000344097:S239L	S	+	2	0	ZNF76	35367123	1.000000	0.71417	0.975000	0.42487	0.953000	0.61014	7.609000	0.82925	2.941000	0.99782	0.655000	0.94253	TCA		0.552	ZNF76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040279.2	NM_003427		12	7	0	0	0	1	0	12	7				
NPAP1	23742	broad.mit.edu	37	15	24924310	24924310	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr15:24924310G>T	ENST00000329468.2	+	1	3770	c.3296G>T	c.(3295-3297)tGc>tTc	p.C1099F		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	1099					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAGAATTCATGCAGTGGTATG	0.507																																						ENST00000329468.2																			0											c.(3295-3297)tGc>tTc		nuclear pore associated protein 1							140.0	125.0	130.0					15																	24924310		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24924310G>T	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.3296G>T	15.37:g.24924310G>T	ENSP00000333735:p.Cys1099Phe						p.C1099F	NM_018958.2	NP_061831.2					1	3770	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.3296G>T	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	3.550	-0.091926	0.07053	.	.	ENSG00000185823	ENST00000329468	T	0.05855	3.38	1.68	-0.351	0.12602	.	.	.	.	.	T	0.03095	0.0091	N	0.08118	0	0.09310	N	1	B	0.15473	0.013	B	0.10450	0.005	T	0.42430	-0.9452	9	0.59425	D	0.04	.	3.948	0.09356	0.4404:0.0:0.5596:0.0	.	1099	Q9NZP6	CO002_HUMAN	F	1099	ENSP00000333735:C1099F	ENSP00000333735:C1099F	C	+	2	0	C15orf2	22475403	0.000000	0.05858	0.000000	0.03702	0.038000	0.13279	0.041000	0.13927	-0.099000	0.12263	0.313000	0.20887	TGC		0.507	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		69	101	1	0	1.62403e-39	1	1.89471e-39	69	101				
POTEC	388468	broad.mit.edu	37	18	14513764	14513764	+	Missense_Mutation	SNP	C	C	T	rs201788045		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr18:14513764C>T	ENST00000358970.5	-	10	1429	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	477								p.R477Q(12)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						AAGTTGTTTCCGGGTATCATT	0.358																																						ENST00000358970.5																			12	Substitution - Missense(12)	p.R477Q(12)	endometrium(4)|kidney(3)|urinary_tract(2)|prostate(2)|soft_tissue(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1429-1431)cGg>cAg		POTE ankyrin domain family, member C							13.0	9.0	10.0					18																	14513764		683	1543	2226	SO:0001583	missense	388468							g.chr18:14513764C>T	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1430G>A	18.37:g.14513764C>T	ENSP00000351856:p.Arg477Gln						p.R477Q	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1429	-			477						Missense_Mutation	SNP	ENST00000358970.5	37	c.1430G>A	CCDS45835.1	492	0.22527472527472528	61	0.12398373983739837	82	0.2265193370165746	187	0.3269230769230769	162	0.21372031662269128	c	0.001	-3.539655	0.00009	.	.	ENSG00000183206	ENST00000358970	T	0.20881	2.04	1.34	0.0657	0.14358	.	.	.	.	.	T	0.00012	0.0000	N	0.00116	-2.08	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42430	-0.9452	9	0.06757	T	0.87	.	3.4153	0.07373	0.0:0.2473:0.0:0.7527	.	477	B2RU33	POTEC_HUMAN	Q	477	ENSP00000351856:R477Q	ENSP00000351856:R477Q	R	-	2	0	POTEC	14503764	0.885000	0.30320	0.063000	0.19743	0.005000	0.04900	1.581000	0.36558	0.005000	0.14708	-1.615000	0.00797	CGG		0.358	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		4	89	0	0	0	1	0	4	89				
CDK5RAP2	55755	broad.mit.edu	37	9	123215894	123215894	+	Missense_Mutation	SNP	G	G	A	rs112982005	byFrequency	TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr9:123215894G>A	ENST00000349780.4	-	21	2812	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.T878M|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.T846M|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.T878M	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	878					brain development (GO:0007420)|centrosome organization (GO:0051297)|chromosome segregation (GO:0007059)|establishment of mitotic spindle orientation (GO:0000132)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule bundle formation (GO:0001578)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|negative regulation of centriole replication (GO:0046600)|negative regulation of neuron differentiation (GO:0045665)|neurogenesis (GO:0022008)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of spindle checkpoint (GO:0090231)	cell junction (GO:0030054)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)|spindle pole (GO:0000922)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GTCGCCCTCCGTGGCCACAGT	0.542																																						ENST00000349780.4																			0				breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						c.(2632-2634)aCg>aTg		CDK5 regulatory subunit associated protein 2		G	MET/THR,MET/THR	0,4406		0,0,2203	158.0	139.0	145.0		2633,2633	-7.1	0.0	9	dbSNP_132	145	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CDK5RAP2	NM_001011649.1,NM_018249.4	81,81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign	878/1815,878/1894	123215894	1,13005	2203	4300	6503	SO:0001583	missense	55755				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding	g.chr9:123215894G>A	BK005504	CCDS6823.1, CCDS43871.1, CCDS75888.1	9q33.3	2014-02-21			ENSG00000136861	ENSG00000136861			18672	protein-coding gene	gene with protein product	"""centrosomin"""	608201	"""microcephaly, primary autosomal recessive 3"""	MCPH3		10721722, 17764569, 24466316	Standard	NM_018249		Approved	C48, FLJ10867, CEP215	uc004bkf.4	Q96SN8	OTTHUMG00000021043	ENST00000349780.4:c.2633C>T	9.37:g.123215894G>A	ENSP00000343818:p.Thr878Met					CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.T846M|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.T878M|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.T878M	p.T878M	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN			21	2812	-			878					Q5JV18|Q7Z3L4|Q7Z3U1|Q7Z7I6|Q9BSW0|Q9H6J6|Q9HCD9|Q9NV90|Q9UIW9	Missense_Mutation	SNP	ENST00000349780.4	37	c.2633C>T	CCDS6823.1	.	.	.	.	.	.	.	.	.	.	G	9.948	1.219244	0.22373	0.0	1.16E-4	ENSG00000136861	ENST00000360822;ENST00000359309;ENST00000349780;ENST00000360190;ENST00000416449	T;T;T;T;T	0.17691	3.94;3.86;3.95;3.86;2.26	5.78	-7.07	0.01563	.	2.499820	0.01086	N	0.005095	T	0.08492	0.0211	N	0.08118	0	0.09310	N	1	B;B;B;B	0.25048	0.072;0.117;0.043;0.029	B;B;B;B	0.15870	0.003;0.014;0.003;0.003	T	0.21109	-1.0255	10	0.37606	T	0.19	.	10.6429	0.45602	0.3657:0.0:0.5341:0.1002	.	647;878;878;272	Q6MZT4;Q96SN8-4;Q96SN8;B1AMJ5	.;.;CK5P2_HUMAN;.	M	846;878;878;878;272	ENSP00000354065:T846M;ENSP00000352258:T878M;ENSP00000343818:T878M;ENSP00000353317:T878M;ENSP00000400395:T272M	ENSP00000343818:T878M	T	-	2	0	CDK5RAP2	122255715	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.520000	0.06252	-1.220000	0.02594	-0.312000	0.09012	ACG		0.542	CDK5RAP2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055535.1	NM_018249		56	46	0	0	0	1	0	56	46				
SAG	6295	broad.mit.edu	37	2	234237211	234237211	+	Missense_Mutation	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:234237211C>G	ENST00000409110.1	+	8	830	c.600C>G	c.(598-600)ttC>ttG	p.F200L	SAG_ENST00000449594.2_Missense_Mutation_p.F66L	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	200					cell surface receptor signaling pathway (GO:0007166)|negative regulation of catalytic activity (GO:0043086)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	cytosol (GO:0005829)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CCTGGCAGTTCTTCATGTCTG	0.602																																						ENST00000409110.1																			0				cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9						c.(598-600)ttC>ttG		S-antigen; retina and pineal gland (arrestin)							100.0	99.0	100.0					2																	234237211		1996	4174	6170	SO:0001583	missense	6295				rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity	g.chr2:234237211C>G		CCDS46545.1	2q37.1	2013-02-14			ENSG00000130561	ENSG00000130561			10521	protein-coding gene	gene with protein product	"""arrestin 1"""	181031				2249983	Standard	NM_000541		Approved	ARRESTIN, RP47	uc002vuh.2	P10523	OTTHUMG00000153213	ENST00000409110.1:c.600C>G	2.37:g.234237211C>G	ENSP00000386444:p.Phe200Leu					SAG_ENST00000449594.2_Missense_Mutation_p.F66L	p.F200L	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)	8	830	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)	200					A0FDN6|Q53SV3|Q99858	Missense_Mutation	SNP	ENST00000409110.1	37	c.600C>G	CCDS46545.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.013602	0.75161	.	.	ENSG00000130561	ENST00000252857;ENST00000409110;ENST00000449594	T;T	0.08546	3.08;3.08	4.19	4.19	0.49359	Immunoglobulin E-set (1);Arrestin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.12646	0.0307	M	0.83312	2.635	0.58432	D	0.999999	P;P	0.50369	0.815;0.934	B;B	0.37508	0.157;0.252	T	0.04579	-1.0941	10	0.87932	D	0	-8.9773	11.6988	0.51558	0.0:0.9134:0.0:0.0866	.	66;200	B7Z7L5;P10523	.;ARRS_HUMAN	L	200;200;66	ENSP00000386444:F200L;ENSP00000392889:F66L	ENSP00000252857:F200L	F	+	3	2	SAG	233901950	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.318000	0.43779	2.342000	0.79632	0.655000	0.94253	TTC		0.602	SAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330126.1	NM_000541		13	40	0	0	0	1	0	13	40				
TRIM33	51592	broad.mit.edu	37	1	114968071	114968071	+	Splice_Site	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:114968071C>T	ENST00000358465.2	-	9	1778	c.1695G>A	c.(1693-1695)caG>caA	p.Q565Q	TRIM33_ENST00000450349.2_Splice_Site_p.Q173Q|TRIM33_ENST00000369543.2_Splice_Site_p.Q565Q	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	565					gene expression (GO:0010467)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	co-SMAD binding (GO:0070410)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|R-SMAD binding (GO:0070412)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGATACTTACCTGTTGTTGTA	0.383			T	RET	papillary thyroid																																	ENST00000358465.2				Dom	yes		1	1p13	51592	T	""" tripartite motif-containing 33 (PTC7,TIF1G)"""			E	RET		papillary thyroid		0				breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48						c.e9+1		tripartite motif containing 33							246.0	249.0	248.0					1																	114968071		2203	4300	6503	SO:0001630	splice_region_variant	51592				negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding	g.chr1:114968071C>T	AF220136	CCDS872.1, CCDS873.1	1p13.1	2014-02-17	2011-01-25		ENSG00000197323	ENSG00000197323		"""Tripartite motif containing / Tripartite motif containing"", ""Zinc fingers, PHD-type"", ""RING-type (C3HC4) zinc fingers"""	16290	protein-coding gene	gene with protein product	"""transcriptional intermediary factor 1 gamma"", ""ret-fused gene 7"""	605769	"""tripartite motif-containing 33"""			11331580, 10022127	Standard	XM_005270936		Approved	TIF1GAMMA, FLJ11429, KIAA1113, TIFGAMMA, RFG7, TF1G, TIF1G, PTC7	uc001eew.3	Q9UPN9	OTTHUMG00000011891	ENST00000358465.2:c.1695+1G>A	1.37:g.114968071C>T						TRIM33_ENST00000450349.2_Splice_Site_p.Q173_splice|TRIM33_ENST00000369543.2_Splice_Site_p.Q565_splice	p.Q565_splice	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	9	1778	-	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	565					O95855|Q5TG72|Q5TG73|Q5TG74|Q9C017|Q9UJ79	Splice_Site	SNP	ENST00000358465.2	37	c.1695_splice	CCDS872.1	.	.	.	.	.	.	.	.	.	.	C	11.34	1.610983	0.28712	.	.	ENSG00000197323	ENST00000448034	.	.	.	4.86	2.99	0.34606	.	.	.	.	.	T	0.48114	0.1482	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44452	-0.9327	4	.	.	.	-6.7369	10.9116	0.47112	0.0:0.8476:0.0:0.1524	.	.	.	.	N	302	.	.	S	-	2	0	TRIM33	114769594	1.000000	0.71417	0.996000	0.52242	0.962000	0.63368	4.190000	0.58365	0.577000	0.29470	0.650000	0.86243	AGC		0.383	TRIM33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032854.1	NM_015906	Silent	42	85	0	0	0	1	0	42	85				
IRF6	3664	broad.mit.edu	37	1	209974625	209974625	+	Missense_Mutation	SNP	C	C	T	rs121434229		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:209974625C>T	ENST00000367021.3	-	3	306	c.134G>A	c.(133-135)cGg>cAg	p.R45Q	IRF6_ENST00000542854.1_Intron	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	45			R -> Q (in VWS1; dbSNP:rs121434229). {ECO:0000269|PubMed:14618417}.		cell cycle arrest (GO:0007050)|cell development (GO:0048468)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|keratinocyte differentiation (GO:0030216)|keratinocyte proliferation (GO:0043616)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		AGGGCTATGCCGGGTGGCATG	0.468										HNSCC(57;0.16)			C|||	1	0.000199681	0.0008	0.0	5008	,	,		16929	0.0		0.0	False		,,,				2504	0.0					ENST00000367021.3																			0				cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28	GRCh37	CM034818	IRF6	M	rs121434229	c.(133-135)cGg>cAg		interferon regulatory factor 6							87.0	94.0	92.0					1																	209974625		2203	4300	6503	SO:0001583	missense	3664				cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr1:209974625C>T	AL022398	CCDS1492.1, CCDS55681.1	1q32.2-q32.3	2011-02-10			ENSG00000117595	ENSG00000117595			6121	protein-coding gene	gene with protein product		607199	"""Van der Woude syndrome"""	VWS, LPS		12219090	Standard	NM_006147		Approved	OFC6, VWS1	uc001hhq.2	O14896	OTTHUMG00000036521	ENST00000367021.3:c.134G>A	1.37:g.209974625C>T	ENSP00000355988:p.Arg45Gln	HNSCC(57;0.16)				IRF6_ENST00000542854.1_Intron	p.R45Q	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0351)	3	306	-			45		R -> Q (in VWS).			B4DLE2|D3DT90|F5GWX8|G0ZTL0	Missense_Mutation	SNP	ENST00000367021.3	37	c.134G>A	CCDS1492.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	36	5.676240	0.96764	.	.	ENSG00000117595	ENST00000367021;ENST00000456314	D;D	0.98280	-4.84;-4.84	6.17	6.17	0.99709	Interferon regulatory factor, conserved site (1);Winged helix-turn-helix transcription repressor DNA-binding (1);Interferon regulatory factor DNA-binding domain (4);	0.052273	0.85682	D	0.000000	D	0.99052	0.9675	M	0.84326	2.69	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99087	1.0839	8	.	.	.	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	45	O14896	IRF6_HUMAN	Q	45	ENSP00000355988:R45Q;ENSP00000403855:R45Q	.	R	-	2	0	IRF6	208041248	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.311000	0.78958	2.941000	0.99782	0.655000	0.94253	CGG		0.468	IRF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088827.1	NM_006147		20	80	0	0	0	1	0	20	80				
TTC7B	145567	broad.mit.edu	37	14	91059906	91059906	+	Silent	SNP	C	C	T	rs200803822		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr14:91059906C>T	ENST00000328459.6	-	18	2152	c.2031G>A	c.(2029-2031)tcG>tcA	p.S677S	TTC7B_ENST00000554654.1_5'UTR|TTC7B_ENST00000357056.2_Silent_p.S694S	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	677										NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TCTGCAGAGACGAAGCCACTT	0.607													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16422	0.0		0.0	False		,,,				2504	0.0					ENST00000357056.2																			0				NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36						c.(2080-2082)tcG>tcA		tetratricopeptide repeat domain 7B		C		2,4404	4.2+/-10.8	0,2,2201	80.0	67.0	72.0		2031	-11.0	0.6	14		72	0,8600		0,0,4300	no	coding-synonymous	TTC7B	NM_001010854.1		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		677/844	91059906	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	145567						binding	g.chr14:91059906C>T	BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.2031G>A	14.37:g.91059906C>T						TTC7B_ENST00000328459.6_Silent_p.S677S|TTC7B_ENST00000554654.1_5'UTR	p.S694S			Q86TV6	TTC7B_HUMAN			19	2203	-		Melanoma(154;0.222)	677					Q86U24|Q86VT3	Silent	SNP	ENST00000328459.6	37	c.2082G>A	CCDS32140.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	9.560	1.118339	0.20877	4.54E-4	0.0	ENSG00000165914	ENST00000557292	.	.	.	5.6	-11.0	0.00169	.	.	.	.	.	T	0.32704	0.0838	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42464	-0.9450	4	.	.	.	-8.3837	3.0103	0.06042	0.3295:0.0911:0.1158:0.4636	.	.	.	.	I	105	.	.	V	-	1	0	TTC7B	90129659	0.000000	0.05858	0.643000	0.29450	0.881000	0.50899	-5.489000	0.00118	-1.596000	0.01611	-0.188000	0.12872	GTC		0.607	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411364.2			3	60	0	0	0	1	0	3	60				
CNOT4	4850	broad.mit.edu	37	7	135106950	135106950	+	Missense_Mutation	SNP	G	G	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr7:135106950G>T	ENST00000315544.5	-	3	606	c.327C>A	c.(325-327)aaC>aaA	p.N109K	CNOT4_ENST00000428680.2_Missense_Mutation_p.N109K|CNOT4_ENST00000361528.4_Missense_Mutation_p.N109K|CNOT4_ENST00000356162.4_Missense_Mutation_p.N109K|CNOT4_ENST00000414802.1_Missense_Mutation_p.N109K|CNOT4_ENST00000451834.1_Missense_Mutation_p.N109K|CNOT4_ENST00000423368.2_Missense_Mutation_p.N109K|CNOT4_ENST00000541284.1_Missense_Mutation_p.N109K	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	109	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CAAAGACGAGGTTTTTTTGTA	0.353																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(325-327)aaC>aaA		CCR4-NOT transcription complex, subunit 4							164.0	154.0	157.0					7																	135106950		1852	4088	5940	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135106950G>T	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.327C>A	7.37:g.135106950G>T	ENSP00000326731:p.Asn109Lys					CNOT4_ENST00000423368.2_Missense_Mutation_p.N109K|CNOT4_ENST00000356162.4_Missense_Mutation_p.N109K|CNOT4_ENST00000541284.1_Missense_Mutation_p.N109K|CNOT4_ENST00000414802.1_Missense_Mutation_p.N109K|CNOT4_ENST00000451834.1_Missense_Mutation_p.N109K|CNOT4_ENST00000361528.4_Missense_Mutation_p.N109K|CNOT4_ENST00000315544.5_Missense_Mutation_p.N109K	p.N109K	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			3	606	-			109			RRM.		B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.327C>A	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.642736	0.87859	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.97	5.97	0.96955	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.000000	0.85682	D	0.000000	T	0.72078	0.3416	M	0.93462	3.42	0.80722	D	1	P;D;D;D;D;D	0.89917	0.78;0.999;0.999;1.0;0.989;0.989	P;D;D;D;D;D	0.80764	0.674;0.986;0.972;0.994;0.969;0.969	T	0.78360	-0.2234	10	0.72032	D	0.01	-14.3619	13.135	0.59403	0.1126:0.0:0.8874:0.0	.	109;109;109;109;109;109	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	K	109	ENSP00000445508:N109K;ENSP00000388491:N109K;ENSP00000406777:N109K;ENSP00000354673:N109K;ENSP00000416532:N109K;ENSP00000348485:N109K;ENSP00000399108:N109K;ENSP00000326731:N109K	ENSP00000262563:N109K	N	-	3	2	CNOT4	134757490	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.127000	0.57944	2.836000	0.97738	0.655000	0.94253	AAC		0.353	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		42	54	1	0	1.51926e-22	1	1.70682e-22	42	54				
GRK4	2868	broad.mit.edu	37	4	3029648	3029648	+	Missense_Mutation	SNP	G	G	A	rs540093348		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr4:3029648G>A	ENST00000398052.4	+	11	1323	c.980G>A	c.(979-981)cGg>cAg	p.R327Q	GRK4_ENST00000345167.6_Missense_Mutation_p.R295Q|GRK4_ENST00000504933.1_Missense_Mutation_p.R327Q|GRK4_ENST00000398051.4_Missense_Mutation_p.R295Q|GRK4_ENST00000509545.1_3'UTR	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGACACATCCGGATTTCAGAC	0.483																																						ENST00000398052.4																			0				lung(1)|upper_aerodigestive_tract(1)	2						c.(979-981)cGg>cAg		G protein-coupled receptor kinase 4							136.0	132.0	133.0					4																	3029648		2203	4300	6503	SO:0001583	missense	2868					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr4:3029648G>A		CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.980G>A	4.37:g.3029648G>A	ENSP00000381129:p.Arg327Gln					GRK4_ENST00000345167.6_Missense_Mutation_p.R295Q|GRK4_ENST00000504933.1_Missense_Mutation_p.R327Q|GRK4_ENST00000509545.1_3'UTR|GRK4_ENST00000398051.4_Missense_Mutation_p.R295Q	p.R327Q	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.168)	11	1323	+			327			Protein kinase.		O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Missense_Mutation	SNP	ENST00000398052.4	37	c.980G>A	CCDS33946.1	.	.	.	.	.	.	.	.	.	.	G	35	5.418930	0.96092	.	.	ENSG00000125388	ENST00000398051;ENST00000398052;ENST00000345167;ENST00000504933	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	5.17	5.17	0.71159	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	U	0.000001	T	0.49745	0.1575	M	0.64080	1.96	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.75020	0.955;0.977;0.974;0.985	T	0.51624	-0.8682	10	0.87932	D	0	-14.2282	17.7563	0.88450	0.0:0.0:1.0:0.0	.	295;295;327;327	P32298-3;P32298-2;P32298-4;P32298	.;.;.;GRK4_HUMAN	Q	295;327;295;327	ENSP00000381128:R295Q;ENSP00000381129:R327Q;ENSP00000264764:R295Q;ENSP00000427445:R327Q	ENSP00000264764:R295Q	R	+	2	0	GRK4	2999446	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.772000	0.85439	2.419000	0.82065	0.558000	0.71614	CGG		0.483	GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307		15	44	0	0	0	1	0	15	44				
SNX25	83891	broad.mit.edu	37	4	186241903	186241903	+	Missense_Mutation	SNP	A	A	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr4:186241903A>G	ENST00000504273.1	+	8	1163	c.869A>G	c.(868-870)gAt>gGt	p.D290G	SNX25_ENST00000512853.1_3'UTR|SNX25_ENST00000264694.8_Missense_Mutation_p.D290G			Q9H3E2	SNX25_HUMAN	sorting nexin 25	290	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein transport (GO:0015031)|receptor catabolic process (GO:0032801)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CAGTTTGAAGATATCTTGGCC	0.328																																						ENST00000504273.1																			0				NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40						c.(868-870)gAt>gGt		sorting nexin 25							92.0	93.0	93.0					4																	186241903		2203	4300	6503	SO:0001583	missense	83891				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity	g.chr4:186241903A>G	AF113223	CCDS34116.1	4q35.1	2011-05-03			ENSG00000109762	ENSG00000109762		"""Sorting nexins"""	21883	protein-coding gene	gene with protein product						12461558	Standard	NM_031953		Approved	SBBI31	uc003ixh.3	Q9H3E2	OTTHUMG00000160475	ENST00000504273.1:c.869A>G	4.37:g.186241903A>G	ENSP00000426255:p.Asp290Gly					SNX25_ENST00000264694.8_Missense_Mutation_p.D290G|SNX25_ENST00000512853.1_3'UTR	p.D290G			Q9H3E2	SNX25_HUMAN		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)	8	1163	+		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)	290			RGS.		Q3ZT30|Q8N6K3	Missense_Mutation	SNP	ENST00000504273.1	37	c.869A>G	CCDS34116.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.068596	0.76301	.	.	ENSG00000109762	ENST00000504273;ENST00000264694	T;T	0.01998	4.51;4.51	5.26	5.26	0.73747	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.172152	0.50627	D	0.000116	T	0.05318	0.0141	L	0.46157	1.445	0.58432	D	0.999993	P;P	0.45283	0.855;0.645	P;P	0.49502	0.613;0.455	T	0.54669	-0.8259	10	0.31617	T	0.26	-17.1308	15.4661	0.75403	1.0:0.0:0.0:0.0	.	61;290	Q8N6K3;Q9H3E2	.;SNX25_HUMAN	G	290	ENSP00000426255:D290G;ENSP00000264694:D290G	ENSP00000264694:D290G	D	+	2	0	SNX25	186478897	1.000000	0.71417	0.997000	0.53966	0.967000	0.64934	8.829000	0.92055	2.123000	0.65237	0.459000	0.35465	GAT		0.328	SNX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360756.1	NM_031953		20	35	0	0	0	1	0	20	35				
RTP1	132112	broad.mit.edu	37	3	186917361	186917361	+	Missense_Mutation	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr3:186917361C>T	ENST00000312295.4	+	2	325	c.295C>T	c.(295-297)Cac>Tac	p.H99Y	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	99					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CTGGTGCTGGCACACCTGGCA	0.647																																						ENST00000312295.4																			0				breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22						c.(295-297)Cac>Tac		receptor (chemosensory) transporter protein 1							75.0	65.0	69.0					3																	186917361		2203	4300	6503	SO:0001583	missense	132112				protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding	g.chr3:186917361C>T	BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.295C>T	3.37:g.186917361C>T	ENSP00000311712:p.His99Tyr					RP11-208N14.4_ENST00000356133.3_RNA	p.H99Y	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)	2	325	+	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		99						Missense_Mutation	SNP	ENST00000312295.4	37	c.295C>T	CCDS3287.2	.	.	.	.	.	.	.	.	.	.	C	19.48	3.836433	0.71373	.	.	ENSG00000175077	ENST00000312295	T	0.22945	1.93	5.7	4.83	0.62350	.	0.093484	0.64402	D	0.000001	T	0.25754	0.0627	N	0.22421	0.69	0.26790	N	0.969413	P	0.45126	0.851	P	0.50192	0.634	T	0.06607	-1.0817	10	0.66056	D	0.02	.	10.6512	0.45649	0.0:0.9121:0.0:0.0879	.	99	P59025	RTP1_HUMAN	Y	99	ENSP00000311712:H99Y	ENSP00000311712:H99Y	H	+	1	0	RTP1	188400055	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.103000	0.41806	1.430000	0.47334	0.561000	0.74099	CAC		0.647	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313731.2	NM_153708		34	57	0	0	0	1	0	34	57				
MXI1	4601	broad.mit.edu	37	10	112039789	112039789	+	Nonsense_Mutation	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:112039789C>T	ENST00000239007.7	+	5	687	c.469C>T	c.(469-471)Cga>Tga	p.R157*	MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000361248.4_Nonsense_Mutation_p.R111*|MXI1_ENST00000393134.1_Nonsense_Mutation_p.R147*|MXI1_ENST00000332674.5_Nonsense_Mutation_p.R224*|MXI1_ENST00000369612.1_Nonsense_Mutation_p.R121*	NM_005962.4	NP_005953.4	P50539	MXI1_HUMAN	MAX interactor 1, dimerization protein	157					cytoplasmic sequestering of transcription factor (GO:0042994)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)	p.R224*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGAACGAATACGAATGGACAG	0.443																																						ENST00000332674.5																			1	Substitution - Nonsense(1)	p.R224*(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(1)	10						c.(670-672)Cga>Tga		MAX interactor 1, dimerization protein							121.0	111.0	115.0					10																	112039789		2203	4300	6503	SO:0001587	stop_gained	4601				cytoplasmic sequestering of transcription factor|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity	g.chr10:112039789C>T	BC016678	CCDS7563.1, CCDS7564.2, CCDS31284.1	10q24-q25	2012-11-15	2012-11-15		ENSG00000119950	ENSG00000119950		"""MAX dimerization proteins"", ""Basic helix-loop-helix proteins"""	7534	protein-coding gene	gene with protein product		600020	"""MAX interacting protein 1"", ""MAX interactor 1"""			7959753	Standard	NM_130439		Approved	MXD2, MAD2, MXI, bHLHc11	uc001kyy.3	P50539	OTTHUMG00000019033	ENST00000239007.7:c.469C>T	10.37:g.112039789C>T	ENSP00000239007:p.Arg157*					MXI1_ENST00000485566.1_3'UTR|MXI1_ENST00000361248.4_Nonsense_Mutation_p.R111*|MXI1_ENST00000239007.7_Nonsense_Mutation_p.R157*|MXI1_ENST00000393134.1_Nonsense_Mutation_p.R147*|MXI1_ENST00000369612.1_Nonsense_Mutation_p.R121*	p.R224*	NM_130439.3	NP_569157.2	P50539	MXI1_HUMAN		Epithelial(162;1.33e-05)|all cancers(201;0.000277)|BRCA - Breast invasive adenocarcinoma(275;0.127)	5	874	+		Breast(234;0.052)|Lung NSC(174;0.223)	157					B1ANN7|D3DR25|D3DRA9|Q15887|Q6FHW2|Q96E53	Nonsense_Mutation	SNP	ENST00000239007.7	37	c.670C>T	CCDS7564.2	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480205	0.84747	.	.	ENSG00000119950	ENST00000332674;ENST00000453116;ENST00000361248;ENST00000239007;ENST00000369619;ENST00000393134;ENST00000369614;ENST00000369613;ENST00000369612	.	.	.	5.6	4.7	0.59300	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3439	14.5813	0.68292	0.0:0.9298:0.0:0.0702	.	.	.	.	X	224;214;111;157;147;147;121;121;121	.	ENSP00000239007:R157X	R	+	1	2	MXI1	112029779	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.001000	0.70685	1.510000	0.48803	0.650000	0.86243	CGA		0.443	MXI1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050316.1	NM_130439		11	19	0	0	0	1	0	11	19				
KRTAP4-9	100132386	broad.mit.edu	37	17	39261693	39261693	+	Missense_Mutation	SNP	A	A	T	rs113059833		TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr17:39261693A>T	ENST00000391415.1	+	1	110	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	18					aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.D18V(1)		central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGCGGCCAAGACCTCTGTCAG	0.627																																						ENST00000391415.1																			1	Substitution - Missense(1)	p.D18V(1)	endometrium(1)	central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(52-54)gAc>gTc		keratin associated protein 4-9							18.0	22.0	21.0					17																	39261693		692	1590	2282	SO:0001583	missense	100132386					keratin filament		g.chr17:39261693A>T	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.53A>T	17.37:g.39261693A>T	ENSP00000375234:p.Asp18Val						p.D18V	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	110	+			18						Missense_Mutation	SNP	ENST00000391415.1	37	c.53A>T	CCDS54124.1	.	.	.	.	.	.	.	.	.	.	.	6.082	0.383461	0.11524	.	.	ENSG00000212722	ENST00000391415;ENST00000333994	T	0.32272	1.46	2.51	0.174	0.15040	.	.	.	.	.	T	0.25865	0.0630	M	0.64404	1.975	0.30580	P	0.762648	B	0.17852	0.024	B	0.14023	0.01	T	0.23154	-1.0196	8	0.45353	T	0.12	.	3.5681	0.07907	0.2702:0.2037:0.5261:0.0	.	18	Q9BYQ8	KRA49_HUMAN	V	18	ENSP00000375234:D18V	ENSP00000334461:D18V	D	+	2	0	KRTAP4-9	36515219	0.000000	0.05858	0.388000	0.26195	0.320000	0.28249	0.098000	0.15189	-0.245000	0.09625	0.155000	0.16302	GAC		0.627	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		4	29	0	0	0	1	0	4	29				
DNA2	1763	broad.mit.edu	37	10	70196776	70196776	+	Silent	SNP	T	T	C			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr10:70196776T>C	ENST00000358410.3	-	10	1688	c.1638A>G	c.(1636-1638)ttA>ttG	p.L546L	DNA2_ENST00000399180.2_Silent_p.L632L|DNA2_ENST00000399179.2_Silent_p.L546L	NM_001080449.2	NP_001073918.2	P51530	DNA2_HUMAN	DNA replication helicase/nuclease 2	546	Helicase activity. {ECO:0000250}.				ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|DNA replication, Okazaki fragment processing (GO:0033567)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|mitochondrial DNA repair (GO:0043504)|mitochondrial DNA replication (GO:0006264)|mitotic cell cycle (GO:0000278)|positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	mitochondrial nucleoid (GO:0042645)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|5'-3' DNA helicase activity (GO:0043139)|5'-flap endonuclease activity (GO:0017108)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|nuclease activity (GO:0004518)|single-stranded DNA-dependent ATPase activity (GO:0043142)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						ACCTGTCTAATAAACAAGTTA	0.333																																						ENST00000399180.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						c.(1894-1896)ttA>ttG		DNA replication helicase/nuclease 2							127.0	122.0	124.0					10																	70196776		1852	4098	5950	SO:0001819	synonymous_variant	1763				base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base	g.chr10:70196776T>C	D42046	CCDS44415.1, CCDS44415.2	10q21.3-q22.1	2013-05-13	2013-05-13	2008-01-08	ENSG00000138346	ENSG00000138346			2939	protein-coding gene	gene with protein product		601810	"""DNA2 DNA replication helicase 2-like (yeast)"", ""DNA replication helicase 2 homolog (yeast)"""	DNA2L		8938459, 17032657, 23352259	Standard	NM_001080449		Approved	KIAA0083	uc031pvh.1	P51530	OTTHUMG00000018352	ENST00000358410.3:c.1638A>G	10.37:g.70196776T>C						DNA2_ENST00000358410.3_Silent_p.L546L|DNA2_ENST00000399179.2_Silent_p.L546L	p.L632L			P51530	DNA2L_HUMAN			10	1895	-			546					Q2NKM1|Q5TC49|Q5TC50|Q6P455|Q6PI80|Q7Z6H9|Q8N346	Silent	SNP	ENST00000358410.3	37	c.1896A>G																																																																																					0.333	DNA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048334.2			46	59	0	0	0	1	0	46	59				
REXO1L1P	254958	broad.mit.edu	37	8	86573795	86573795	+	Silent	SNP	G	G	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr8:86573795G>A	ENST00000379010.2	-	1	1931	c.1932C>T	c.(1930-1932)agC>agT	p.S644S		NM_172239.4	NP_758439.4														endometrium(1)|lung(4)	5						GCAGGCAGGCGCTTGCGTCCT	0.672																																						ENST00000379010.2																			0				endometrium(1)|lung(4)	5						c.(1930-1932)agC>agT		REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1							6.0	5.0	5.0					8																	86573795		1887	3834	5721	SO:0001819	synonymous_variant	254958					cytoplasm|nucleus	exonuclease activity|nucleic acid binding	g.chr8:86573795G>A																												ENST00000379010.2:c.1932C>T	8.37:g.86573795G>A							p.S644S	NM_172239.4	NP_758439.4	Q8IX06	GOR_HUMAN			1	1931	-			644	S -> N (in Ref. 2; AAN77012).					Silent	SNP	ENST00000379010.2	37	c.1932C>T																																																																																					0.672	REXO1L1-001	PUTATIVE	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381106.1			5	52	0	0	0	1	0	5	52				
PCDH11Y	83259	broad.mit.edu	37	Y	4925224	4925224	+	Silent	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chrY:4925224C>T	ENST00000333703.4	+	4	840	c.327C>T	c.(325-327)ggC>ggT	p.G109G	PCDH11Y_ENST00000362095.5_Silent_p.G120G|PCDH11Y_ENST00000215473.6_Silent_p.G120G	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	120	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TCACTACCGGCGCTCGCATTG	0.448																																						ENST00000333703.4																			0				autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(325-327)ggC>ggT		protocadherin 11 Y-linked																																				SO:0001819	synonymous_variant	83259				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrY:4925224C>T	AF332217	CCDS14776.1, CCDS14777.1, CCDS76066.1	Yp11.2	2010-01-26	2002-05-22	2002-05-24	ENSG00000099715	ENSG00000099715		"""Cadherins / Protocadherins : Non-clustered"""	15813	protein-coding gene	gene with protein product		400022	"""protocadherin 22"""	PCDH22		10644456, 11003707	Standard	NM_032971		Approved	PCDHY	uc004fqo.3	Q9BZA8	OTTHUMG00000035105	ENST00000333703.4:c.327C>T	Y.37:g.4925224C>T						PCDH11Y_ENST00000362095.5_Silent_p.G120G|PCDH11Y_ENST00000215473.6_Silent_p.G120G	p.G109G	NM_001278619.1|NM_032971.2	NP_001265548.1|NP_116753.1	Q9BZA8	PC11Y_HUMAN			4	840	+			120			Cadherin 1.		Q70LR6|Q70LR8|Q70LS0|Q70LS1|Q70LS2|Q70LS3|Q70LS4|Q70LS5|Q8WY34|Q9BZA9|Q9H4E1	Silent	SNP	ENST00000333703.4	37	c.327C>T	CCDS14776.1																																																																																				0.448	PCDH11Y-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084979.2	NM_032973		46	34	0	0	0	1	0	46	34				
SOX6	55553	broad.mit.edu	37	11	16117662	16117662	+	Silent	SNP	C	C	T			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr11:16117662C>T	ENST00000352083.6	-	9	1058	c.981G>A	c.(979-981)aaG>aaA	p.K327K	SOX6_ENST00000527619.1_Intron|SOX6_ENST00000316399.6_Silent_p.K327K|SOX6_ENST00000528252.1_Intron|SOX6_ENST00000396356.3_Silent_p.K327K|SOX6_ENST00000528429.1_Silent_p.K327K			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	327					astrocyte differentiation (GO:0048708)|cardiac muscle cell differentiation (GO:0055007)|cartilage development (GO:0051216)|cell morphogenesis (GO:0000902)|cellular response to transforming growth factor beta stimulus (GO:0071560)|erythrocyte development (GO:0048821)|gene silencing (GO:0016458)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte cell fate specification (GO:0021778)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AGACATGACCCTTCTGTTTAG	0.398																																						ENST00000352083.6																			0				NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						c.(979-981)aaG>aaA		SRY (sex determining region Y)-box 6							131.0	126.0	128.0					11																	16117662		2200	4294	6494	SO:0001819	synonymous_variant	55553				muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:16117662C>T	AF309034	CCDS7821.1, CCDS53604.1, CCDS53605.1	11p15.3	2008-02-05						"""SRY (sex determining region Y)-boxes"""	16421	protein-coding gene	gene with protein product		607257				11255018	Standard	NM_033326		Approved		uc001mme.3	P35712		ENST00000352083.6:c.981G>A	11.37:g.16117662C>T						SOX6_ENST00000396356.3_Silent_p.K327K|SOX6_ENST00000528429.1_Silent_p.K327K|SOX6_ENST00000528252.1_Intron|SOX6_ENST00000527619.1_Intron|SOX6_ENST00000316399.6_Silent_p.K327K	p.K327K			P35712	SOX6_HUMAN			9	1058	-			327					Q86VX7|Q9BXQ3|Q9BXQ4|Q9BXQ5|Q9H0I8	Silent	SNP	ENST00000352083.6	37	c.981G>A																																																																																					0.398	SOX6-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000386811.1	NM_033326		26	41	0	0	0	1	0	26	41				
ZFHX3	463	broad.mit.edu	37	16	72828630	72828630	+	Nonsense_Mutation	SNP	C	C	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr16:72828630C>A	ENST00000268489.5	-	9	8623	c.7951G>T	c.(7951-7953)Gaa>Taa	p.E2651*	ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E1737*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2651					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E2651Q(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCTAGTTGTTCCGGTGTGATG	0.498																																						ENST00000268489.5																			1	Substitution - Missense(1)	p.E2651Q(1)	lung(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(7951-7953)Gaa>Taa		zinc finger homeobox 3							260.0	278.0	272.0					16																	72828630		2198	4300	6498	SO:0001587	stop_gained	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72828630C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7951G>T	16.37:g.72828630C>A	ENSP00000268489:p.Glu2651*					ZFHX3_ENST00000397992.5_Nonsense_Mutation_p.E1737*	p.E2651*	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			9	8623	-		Ovarian(137;0.13)	2651					D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	c.7951G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	51	17.806742	0.99893	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	.	.	.	5.64	5.64	0.86602	.	0.000000	0.50627	D	0.000101	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.683	0.95971	0.0:1.0:0.0:0.0	.	.	.	.	X	2651;1737	.	ENSP00000268489:E2651X	E	-	1	0	ZFHX3	71386131	1.000000	0.71417	0.934000	0.37439	0.724000	0.41520	7.818000	0.86416	2.653000	0.90120	0.561000	0.74099	GAA		0.498	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		10	318	1	0	2.17888e-05	1	2.30556e-05	10	318				
SHE	126669	broad.mit.edu	37	1	154459160	154459160	+	Splice_Site	SNP	C	C	G			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr1:154459160C>G	ENST00000304760.2	-	4	1111		c.e4-1			NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E											breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCAAACTGGACTGGAAGGAAG	0.542																																						ENST00000304760.2																			0				breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14						c.e4-1		Src homology 2 domain containing E							67.0	60.0	63.0					1																	154459160		2203	4300	6503	SO:0001630	splice_region_variant	126669							g.chr1:154459160C>G	AK074067	CCDS30877.1	1q21.3	2013-02-14			ENSG00000169291	ENSG00000169291		"""SH2 domain containing"""	27004	protein-coding gene	gene with protein product		610482				9315092	Standard	NM_001010846		Approved		uc001ffb.3	Q5VZ18	OTTHUMG00000036072	ENST00000304760.2:c.1025-1G>C	1.37:g.154459160C>G								NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		4	1111	-	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)							Q8TEQ5	Splice_Site	SNP	ENST00000304760.2	37		CCDS30877.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.373545	0.82573	.	.	ENSG00000169291	ENST00000555188;ENST00000304760	.	.	.	5.57	5.57	0.84162	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4953	0.90863	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SHE	152725784	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.016000	0.76393	2.785000	0.95823	0.591000	0.81541	.		0.542	SHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087910.2	NM_001010846	Intron	23	20	0	0	0	1	0	23	20				
ISL2	64843	broad.mit.edu	37	15	76632802	76632802	+	Silent	SNP	C	C	A			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr15:76632802C>A	ENST00000290759.4	+	4	857	c.697C>A	c.(697-699)Cgg>Agg	p.R233R	RP11-685G9.2_ENST00000559539.1_RNA	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	233					negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|peripheral nervous system neuron development (GO:0048935)|regulation of transcription, DNA-templated (GO:0006355)|retinal ganglion cell axon guidance (GO:0031290)|spinal cord motor neuron cell fate specification (GO:0021520)|visceral motor neuron differentiation (GO:0021524)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						CCTGAGCCCGCGGGTCATCCG	0.617																																					GBM(97;953 1391 16164 31496 36951)	ENST00000290759.4																			0				breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						c.(697-699)Cgg>Agg		ISL LIM homeobox 2							34.0	39.0	37.0					15																	76632802		2196	4292	6488	SO:0001819	synonymous_variant	64843					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:76632802C>A	AK001022	CCDS10290.1	15q24.3	2012-03-09	2007-07-13		ENSG00000159556	ENSG00000159556		"""Homeoboxes / LIM class"""	18524	protein-coding gene	gene with protein product		609481	"""ISL2 transcription factor, LIM/homeodomain, (islet-2)"""				Standard	NM_145805		Approved	FLJ10160	uc002bbw.1	Q96A47	OTTHUMG00000143723	ENST00000290759.4:c.697C>A	15.37:g.76632802C>A						RP11-685G9.2_ENST00000559539.1_RNA	p.R233R	NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN			4	857	+			233					B3KM37	Silent	SNP	ENST00000290759.4	37	c.697C>A	CCDS10290.1																																																																																				0.617	ISL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289779.1			9	24	1	0	0.000673444	1	0.000688578	9	24				
CNTNAP5	129684	broad.mit.edu	37	2	125521584	125521584	+	Frame_Shift_Del	DEL	C	C	-			TCGA-YL-A9WH-01A-11D-A377-08	TCGA-YL-A9WH-10A-01D-A37A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89ca12c1-faae-41ce-9e9d-26c63aec6dc9	e288a257-57d7-4ddb-b99e-aff289bcc4be	g.chr2:125521584delC	ENST00000431078.1	+	16	2754	c.2390delC	c.(2389-2391)acafs	p.T797fs		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	797	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCATTTTATACAGAAGCCTCT	0.433																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(2389-2391)aafs		contactin associated protein-like 5							128.0	121.0	123.0					2																	125521584		1860	4092	5952	SO:0001589	frameshift_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125521584delC	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.2390delC	2.37:g.125521584delC	ENSP00000399013:p.Thr797fs						p.T797fs	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	16	2754	+			797			Laminin G-like 3.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Frame_Shift_Del	DEL	ENST00000431078.1	37	c.2390delC	CCDS46401.1																																																																																				0.433	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			51	57						51	57	---	---	---	---
